Linked Data
ClinVar Variation Id:
333892
dbSNP Id:
rs61752185
ExAC:
2:209179091 C / T
gnomAD v2:
2-209179091-C-T
gnomAD v3:
2-208314367-C-T
gnomAD v4:
2-208314367-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.208314367C>T , CM000664.2:g.208314367C>T | GRCh38 |
| NC_000002.11:g.209179091C>T , CM000664.1:g.209179091C>T | GRCh37 |
| NC_000002.10:g.208887336C>T | NCBI36 |
| NG_021188.1:g.53101C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264380.9:c.1770C>T MANE Select | ENSP00000264380.4:p.Asn590= | |
| ENST00000264380.8:c.1770C>T | ENSP00000264380.4:p.Asn590= | |
| ENST00000443896.5:c.*1121C>T | ENSP00000407692.1:n.*1121C>T | |
| ENST00000452564.1:c.1602C>T | ENSP00000405736.1:p.Asn534= | |
| NM_015040.3:c.1770C>T | NP_055855.2:p.Asn590= | |
| XM_011510778.1:c.1806C>T | XP_011509080.1:p.Asn602= | |
| XM_011510779.1:c.1806C>T | XP_011509081.1:p.Asn602= | |
| XM_011510780.1:c.1803C>T | XP_011509082.1:p.Asn601= | |
| XM_011510781.1:c.1788C>T | XP_011509083.1:p.Asn596= | |
| XM_011510782.1:c.1806C>T | XP_011509084.1:p.Asn602= | |
| XM_011510783.1:c.1638C>T | XP_011509085.1:p.Asn546= | |
| XM_011510784.1:c.1635C>T | XP_011509086.1:p.Asn545= | |
| XM_011510785.1:c.1620C>T | XP_011509087.1:p.Asn540= | |
| XM_011510786.1:c.1515C>T | XP_011509088.1:p.Asn505= | |
| XM_011510787.1:c.1512C>T | XP_011509089.1:p.Asn504= | |
| XM_011510788.1:c.1479C>T | XP_011509090.1:p.Asn493= | |
| XM_011510789.1:c.1329C>T | XP_011509091.1:p.Asn443= | |
| XM_011510790.1:c.813C>T | XP_011509092.1:p.Asn271= | |
| XM_011510791.1:c.813C>T | XP_011509093.1:p.Asn271= | |
| XM_011510792.1:c.1806C>T | XP_011509094.1:p.Asn602= | |
| XR_922888.1:n.1943C>T | ||
| XM_011510778.3:c.1806C>T | XP_011509080.1:p.Asn602= | |
| XM_011510779.2:c.1806C>T | XP_011509081.1:p.Asn602= | |
| XM_011510780.2:c.1803C>T | XP_011509082.1:p.Asn601= | |
| XM_011510781.3:c.1788C>T | XP_011509083.1:p.Asn596= | |
| XM_011510782.3:c.1806C>T | XP_011509084.1:p.Asn602= | |
| XM_011510783.3:c.1638C>T | XP_011509085.1:p.Asn546= | |
| XM_011510784.2:c.1635C>T | XP_011509086.1:p.Asn545= | |
| XM_011510785.3:c.1620C>T | XP_011509087.1:p.Asn540= | |
| XM_011510786.3:c.1515C>T | XP_011509088.1:p.Asn505= | |
| XM_011510789.2:c.1329C>T | XP_011509091.1:p.Asn443= | |
| XM_011510792.3:c.1806C>T | XP_011509094.1:p.Asn602= | |
| XM_017003568.1:c.1752C>T | XP_016859057.1:p.Asn584= | |
| XM_017003569.1:c.1584C>T | XP_016859058.1:p.Asn528= | |
| XM_017003570.1:c.1311C>T | XP_016859059.1:p.Asn437= | |
| XM_017003571.1:c.1161C>T | XP_016859060.1:p.Asn387= | |
| XM_017003572.1:c.813C>T | XP_016859061.1:p.Asn271= | |
| XM_017003573.1:c.813C>T | XP_016859062.1:p.Asn271= | |
| XM_017003574.1:c.813C>T | XP_016859063.1:p.Asn271= | |
| NM_015040.4:c.1770C>T MANE Select | NP_055855.2:p.Asn590= |