Linked Data
ClinVar Variation Id:
199224
dbSNP Id:
rs148095660
ExAC:
2:152419233 C / T
gnomAD v2:
2-152419233-C-T
gnomAD v3:
2-151562719-C-T
gnomAD v4:
2-151562719-C-T
ERepo:
CA203801/MONDO:0018958/146
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.151562719C>T , CM000664.2:g.151562719C>T | GRCh38 |
| NC_000002.11:g.152419233C>T , CM000664.1:g.152419233C>T | GRCh37 |
| NC_000002.10:g.152127479C>T | NCBI36 |
| NG_009382.2:g.176769G>A , LRG_202:g.176769G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000690043.1:c.1634G>A | ||
| ENST00000397345.8:c.18783G>A MANE Select | ENSP00000380505.3:p.Gln6261= | |
| ENST00000427231.7:c.18783G>A MANE Plus Clinical | ENSP00000416578.2:p.Gln6261= | |
| ENST00000172853.14:c.13680G>A | ENSP00000172853.10:p.Gln4560= | |
| ENST00000397345.7:c.18783G>A | ENSP00000380505.3:p.Gln6261= | |
| ENST00000409198.5:c.13680G>A | ENSP00000386259.1:p.Gln4560= | |
| ENST00000413693.5:c.2973G>A | ENSP00000410961.1:p.Gln991= | |
| ENST00000427231.6:c.18783G>A | ENSP00000416578.2:p.Gln6261= | |
| ENST00000603639.5:c.18783G>A | ENSP00000473894.1:p.Gln6261= | |
| ENST00000604864.5:c.18783G>A | ENSP00000474498.1:p.Gln6261= | |
| ENST00000618972.4:c.18783G>A | ENSP00000484342.1:p.Gln6261= | |
| NM_001164507.1:c.18783G>A | NP_001157979.1:p.Gln6261= | |
| NM_001164508.1:c.18783G>A | NP_001157980.1:p.Gln6261= | |
| NM_001271208.1:c.18783G>A , LRG_202t1:c.18783G>A | NP_001258137.1:p.Gln6261= | |
| NM_004543.4:c.13680G>A | NP_004534.2:p.Gln4560= | |
| XM_005246590.1:c.18783G>A | XP_005246647.1:p.Gln6261= | |
| XM_005246591.1:c.18783G>A | XP_005246648.1:p.Gln6261= | |
| XM_005246592.1:c.18783G>A | XP_005246649.1:p.Gln6261= | |
| XM_005246593.1:c.18783G>A | XP_005246650.1:p.Gln6261= | |
| XM_005246594.1:c.18783G>A | XP_005246651.1:p.Gln6261= | |
| XM_005246595.1:c.18783G>A | XP_005246652.1:p.Gln6261= | |
| XM_005246596.1:c.18783G>A | XP_005246653.1:p.Gln6261= | |
| XM_005246597.1:c.18783G>A | XP_005246654.1:p.Gln6261= | |
| XM_005246598.1:c.18783G>A | XP_005246655.1:p.Gln6261= | |
| XM_005246599.1:c.18783G>A | XP_005246656.1:p.Gln6261= | |
| XM_005246600.1:c.18783G>A | XP_005246657.1:p.Gln6261= | |
| XM_005246601.1:c.18783G>A | XP_005246658.1:p.Gln6261= | |
| XM_005246602.1:c.18783G>A | XP_005246659.1:p.Gln6261= | |
| XM_005246603.1:c.18783G>A | XP_005246660.1:p.Gln6261= | |
| XM_005246604.1:c.18783G>A | XP_005246661.1:p.Gln6261= | |
| XM_005246606.1:c.18783G>A | XP_005246663.1:p.Gln6261= | |
| XM_005246608.1:c.18783G>A | XP_005246665.1:p.Gln6261= | |
| XM_005246610.1:c.18783G>A | XP_005246667.1:p.Gln6261= | |
| XM_005246611.1:c.18783G>A | XP_005246668.1:p.Gln6261= | |
| XM_005246612.1:c.18054G>A | XP_005246669.1:p.Gln6018= | |
| XM_005246613.1:c.18054G>A | XP_005246670.1:p.Gln6018= | |
| XM_005246615.1:c.18783G>A | XP_005246672.1:p.Gln6261= | |
| XM_005246616.1:c.18783G>A | XP_005246673.1:p.Gln6261= | |
| XM_005246617.1:c.15867G>A | XP_005246674.1:p.Gln5289= | |
| XM_006712541.1:c.18783G>A | XP_006712604.1:p.Gln6261= | |
| XM_006712542.1:c.18783G>A | XP_006712605.1:p.Gln6261= | |
| XM_011511224.1:c.18783G>A | XP_011509526.1:p.Gln6261= | |
| XM_011511225.1:c.18783G>A | XP_011509527.1:p.Gln6261= | |
| XM_011511226.1:c.16596G>A | XP_011509528.1:p.Gln5532= | |
| XM_011511227.1:c.14409G>A | XP_011509529.1:p.Gln4803= | |
| XM_005246590.2:c.18783G>A | XP_005246647.1:p.Gln6261= | |
| XM_005246591.2:c.18783G>A | XP_005246648.1:p.Gln6261= | |
| XM_005246592.2:c.18783G>A | XP_005246649.1:p.Gln6261= | |
| XM_005246593.2:c.18783G>A | XP_005246650.1:p.Gln6261= | |
| XM_005246594.2:c.18783G>A | XP_005246651.1:p.Gln6261= | |
| XM_005246596.2:c.18783G>A | XP_005246653.1:p.Gln6261= | |
| XM_005246597.2:c.18783G>A | XP_005246654.1:p.Gln6261= | |
| XM_005246598.2:c.18783G>A | XP_005246655.1:p.Gln6261= | |
| XM_005246599.2:c.18783G>A | XP_005246656.1:p.Gln6261= | |
| XM_005246601.2:c.18783G>A | XP_005246658.1:p.Gln6261= | |
| XM_005246602.2:c.18783G>A | XP_005246659.1:p.Gln6261= | |
| XM_005246603.2:c.18783G>A | XP_005246660.1:p.Gln6261= | |
| XM_005246604.2:c.18783G>A | XP_005246661.1:p.Gln6261= | |
| XM_005246606.2:c.18783G>A | XP_005246663.1:p.Gln6261= | |
| XM_005246608.2:c.18783G>A | XP_005246665.1:p.Gln6261= | |
| XM_005246610.2:c.18783G>A | XP_005246667.1:p.Gln6261= | |
| XM_005246611.2:c.18783G>A | XP_005246668.1:p.Gln6261= | |
| XM_005246612.2:c.18054G>A | XP_005246669.1:p.Gln6018= | |
| XM_005246613.2:c.18054G>A | XP_005246670.1:p.Gln6018= | |
| XM_005246615.2:c.18783G>A | XP_005246672.1:p.Gln6261= | |
| XM_005246617.2:c.15867G>A | XP_005246674.1:p.Gln5289= | |
| XM_006712541.2:c.18783G>A | XP_006712604.1:p.Gln6261= | |
| XM_006712542.2:c.18783G>A | XP_006712605.1:p.Gln6261= | |
| XM_011511225.2:c.18783G>A | XP_011509527.1:p.Gln6261= | |
| XM_011511226.2:c.16596G>A | XP_011509528.1:p.Gln5532= | |
| XM_011511227.2:c.14409G>A | XP_011509529.1:p.Gln4803= | |
| XM_017004177.1:c.18783G>A | XP_016859666.1:p.Gln6261= | |
| XM_017004178.1:c.18783G>A | XP_016859667.1:p.Gln6261= | |
| XM_017004179.1:c.18783G>A | XP_016859668.1:p.Gln6261= | |
| XM_017004180.1:c.18783G>A | XP_016859669.1:p.Gln6261= | |
| XM_017004181.1:c.18783G>A | XP_016859670.1:p.Gln6261= | |
| XM_017004182.1:c.18783G>A | XP_016859671.1:p.Gln6261= | |
| XM_017004183.1:c.18783G>A | XP_016859672.1:p.Gln6261= | |
| XM_017004184.1:c.18783G>A | XP_016859673.1:p.Gln6261= | |
| XM_017004185.1:c.18783G>A | XP_016859674.1:p.Gln6261= | |
| NM_001271208.2:c.18783G>A | NP_001258137.2:p.Gln6261= | |
| NM_004543.5:c.13680G>A | NP_004534.3:p.Gln4560= | |
| NM_001164507.2:c.18783G>A MANE Plus Clinical | NP_001157979.2:p.Gln6261= | |
| NM_001164508.2:c.18783G>A MANE Select | NP_001157980.2:p.Gln6261= |