Linked Data
ClinVar Variation Id:
548986
dbSNP Id:
rs201326023
ExAC:
2:26681086 C / T
gnomAD v2:
2-26681086-C-T
gnomAD v3:
2-26458218-C-T
gnomAD v4:
2-26458218-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26458218C>T , CM000664.2:g.26458218C>T | GRCh38 |
| NC_000002.11:g.26681086C>T , CM000664.1:g.26681086C>T | GRCh37 |
| NC_000002.10:g.26534590C>T | NCBI36 |
| NG_009937.1:g.105481G>A | |
| NG_042824.1:g.61307C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272371.7:c.*20G>A MANE Select | ENSP00000272371.2:n.*20G>A | |
| ENST00000339598.8:c.3515G>A MANE Plus Clinical | ENSP00000344521.3:p.Arg1172Gln | |
| ENST00000402415.8:c.*20G>A | ENSP00000383906.4:n.*20G>A | |
| ENST00000272371.6:c.*20G>A | ENSP00000272371.2:n.*20G>A | |
| ENST00000338581.10:c.*20G>A | ENSP00000345137.6:n.*20G>A | |
| ENST00000339598.7:c.3515G>A | ENSP00000344521.3:p.Arg1172Gln | |
| ENST00000402415.7:c.*20G>A | ENSP00000383906.3:n.*20G>A | |
| ENST00000403946.7:c.5816G>A | ENSP00000385255.3:p.Arg1939Gln | |
| NM_001287489.1:c.5816G>A | NP_001274418.1:p.Arg1939Gln | |
| NM_004802.3:c.*20G>A | NP_004793.2:n.*20G>A | |
| NM_194248.2:c.*20G>A | NP_919224.1:n.*20G>A | |
| NM_194322.2:c.*20G>A | NP_919303.1:n.*20G>A | |
| NM_194323.2:c.3515G>A | NP_919304.1:p.Arg1172Gln | |
| XM_005264644.2:c.5801G>A | XP_005264701.1:p.Arg1934Gln | |
| XM_011533185.1:c.5861G>A | XP_011531487.1:p.Arg1954Gln | |
| NM_001287489.2:c.5816G>A | NP_001274418.1:p.Arg1939Gln | |
| NM_004802.4:c.*20G>A | NP_004793.2:n.*20G>A | |
| NM_194248.3:c.*20G>A MANE Select | NP_919224.1:n.*20G>A | |
| NM_194322.3:c.*20G>A | NP_919303.1:n.*20G>A | |
| NM_194323.3:c.3515G>A MANE Plus Clinical | NP_919304.1:p.Arg1172Gln |