Linked Data
ClinVar Variation Id:
333895
dbSNP Id:
rs377372888
ExAC:
2:209180036 G / A
gnomAD v2:
2-209180036-G-A
gnomAD v3:
2-208315312-G-A
gnomAD v4:
2-208315312-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.208315312G>A , CM000664.2:g.208315312G>A | GRCh38 |
| NC_000002.11:g.209180036G>A , CM000664.1:g.209180036G>A | GRCh37 |
| NC_000002.10:g.208888281G>A | NCBI36 |
| NG_021188.1:g.54046G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264380.9:c.1946G>A MANE Select | ENSP00000264380.4:p.Arg649Gln | |
| ENST00000264380.8:c.1946G>A | ENSP00000264380.4:p.Arg649Gln | |
| ENST00000443896.5:c.*1297G>A | ENSP00000407692.1:n.*1297G>A | |
| ENST00000452564.1:c.1778G>A | ENSP00000405736.1:p.Arg593Gln | |
| NM_015040.3:c.1946G>A | NP_055855.2:p.Arg649Gln | |
| XM_011510778.1:c.1982G>A | XP_011509080.1:p.Arg661Gln | |
| XM_011510779.1:c.1982G>A | XP_011509081.1:p.Arg661Gln | |
| XM_011510780.1:c.1979G>A | XP_011509082.1:p.Arg660Gln | |
| XM_011510781.1:c.1964G>A | XP_011509083.1:p.Arg655Gln | |
| XM_011510782.1:c.1982G>A | XP_011509084.1:p.Arg661Gln | |
| XM_011510783.1:c.1814G>A | XP_011509085.1:p.Arg605Gln | |
| XM_011510784.1:c.1811G>A | XP_011509086.1:p.Arg604Gln | |
| XM_011510785.1:c.1796G>A | XP_011509087.1:p.Arg599Gln | |
| XM_011510786.1:c.1691G>A | XP_011509088.1:p.Arg564Gln | |
| XM_011510787.1:c.1688G>A | XP_011509089.1:p.Arg563Gln | |
| XM_011510788.1:c.1655G>A | XP_011509090.1:p.Arg552Gln | |
| XM_011510789.1:c.1505G>A | XP_011509091.1:p.Arg502Gln | |
| XM_011510790.1:c.989G>A | XP_011509092.1:p.Arg330Gln | |
| XM_011510791.1:c.989G>A | XP_011509093.1:p.Arg330Gln | |
| XM_011510792.1:c.1982G>A | XP_011509094.1:p.Arg661Gln | |
| XR_922888.1:n.2119G>A | ||
| XM_011510778.3:c.1982G>A | XP_011509080.1:p.Arg661Gln | |
| XM_011510779.2:c.1982G>A | XP_011509081.1:p.Arg661Gln | |
| XM_011510780.2:c.1979G>A | XP_011509082.1:p.Arg660Gln | |
| XM_011510781.3:c.1964G>A | XP_011509083.1:p.Arg655Gln | |
| XM_011510782.3:c.1982G>A | XP_011509084.1:p.Arg661Gln | |
| XM_011510783.3:c.1814G>A | XP_011509085.1:p.Arg605Gln | |
| XM_011510784.2:c.1811G>A | XP_011509086.1:p.Arg604Gln | |
| XM_011510785.3:c.1796G>A | XP_011509087.1:p.Arg599Gln | |
| XM_011510786.3:c.1691G>A | XP_011509088.1:p.Arg564Gln | |
| XM_011510789.2:c.1505G>A | XP_011509091.1:p.Arg502Gln | |
| XM_011510792.3:c.1982G>A | XP_011509094.1:p.Arg661Gln | |
| XM_017003568.1:c.1928G>A | XP_016859057.1:p.Arg643Gln | |
| XM_017003569.1:c.1760G>A | XP_016859058.1:p.Arg587Gln | |
| XM_017003570.1:c.1487G>A | XP_016859059.1:p.Arg496Gln | |
| XM_017003571.1:c.1337G>A | XP_016859060.1:p.Arg446Gln | |
| XM_017003572.1:c.989G>A | XP_016859061.1:p.Arg330Gln | |
| XM_017003573.1:c.989G>A | XP_016859062.1:p.Arg330Gln | |
| XM_017003574.1:c.989G>A | XP_016859063.1:p.Arg330Gln | |
| NM_015040.4:c.1946G>A MANE Select | NP_055855.2:p.Arg649Gln |