Linked Data
ClinVar Variation Id:
48253
dbSNP Id:
rs199766465
ExAC:
2:26686837 C / G
gnomAD v2:
2-26686837-C-G
gnomAD v3:
2-26463969-C-G
gnomAD v4:
2-26463969-C-G
ERepo:
CA345132/MONDO:0019497/005
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26463969C>G , CM000664.2:g.26463969C>G | GRCh38 |
| NC_000002.11:g.26686837C>G , CM000664.1:g.26686837C>G | GRCh37 |
| NC_000002.10:g.26540341C>G | NCBI36 |
| NG_009937.1:g.99730G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272371.7:c.5098G>C MANE Select | ENSP00000272371.2:p.Glu1700Gln | |
| ENST00000339598.8:c.2797G>C MANE Plus Clinical | ENSP00000344521.3:p.Glu933Gln | |
| ENST00000402415.8:c.2857G>C | ENSP00000383906.4:p.Glu953Gln | |
| ENST00000272371.6:c.5098G>C | ENSP00000272371.2:p.Glu1700Gln | |
| ENST00000338581.10:c.2797G>C | ENSP00000345137.6:p.Glu933Gln | |
| ENST00000339598.7:c.2797G>C | ENSP00000344521.3:p.Glu933Gln | |
| ENST00000402415.7:c.3028G>C | ENSP00000383906.3:p.Glu1010Gln | |
| ENST00000403946.7:c.5098G>C | ENSP00000385255.3:p.Glu1700Gln | |
| ENST00000464574.1:n.847G>C | ||
| NM_001287489.1:c.5098G>C | NP_001274418.1:p.Glu1700Gln | |
| NM_004802.3:c.2797G>C | NP_004793.2:p.Glu933Gln | |
| NM_194248.2:c.5098G>C | NP_919224.1:p.Glu1700Gln | |
| NM_194322.2:c.3028G>C | NP_919303.1:p.Glu1010Gln | |
| NM_194323.2:c.2797G>C | NP_919304.1:p.Glu933Gln | |
| XM_005264644.2:c.5083G>C | XP_005264701.1:p.Glu1695Gln | |
| XM_011533185.1:c.5143G>C | XP_011531487.1:p.Glu1715Gln | |
| XM_017005338.1:c.5038G>C | XP_016860827.1:p.Glu1680Gln | |
| NM_001287489.2:c.5098G>C | NP_001274418.1:p.Glu1700Gln | |
| NM_004802.4:c.2797G>C | NP_004793.2:p.Glu933Gln | |
| NM_194248.3:c.5098G>C MANE Select | NP_919224.1:p.Glu1700Gln | |
| NM_194322.3:c.3028G>C | NP_919303.1:p.Glu1010Gln | |
| NM_194323.3:c.2797G>C MANE Plus Clinical | NP_919304.1:p.Glu933Gln |