Linked Data
ClinVar Variation Id:
333893
dbSNP Id:
rs16840913
ExAC:
2:209179939 A / G
gnomAD v2:
2-209179939-A-G
gnomAD v3:
2-208315215-A-G
gnomAD v4:
2-208315215-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.208315215A>G , CM000664.2:g.208315215A>G | GRCh38 |
| NC_000002.11:g.209179939A>G , CM000664.1:g.209179939A>G | GRCh37 |
| NC_000002.10:g.208888184A>G | NCBI36 |
| NG_021188.1:g.53949A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264380.9:c.1849A>G MANE Select | ENSP00000264380.4:p.Met617Val | |
| ENST00000264380.8:c.1849A>G | ENSP00000264380.4:p.Met617Val | |
| ENST00000443896.5:c.*1200A>G | ENSP00000407692.1:n.*1200A>G | |
| ENST00000452564.1:c.1681A>G | ENSP00000405736.1:p.Met561Val | |
| NM_015040.3:c.1849A>G | NP_055855.2:p.Met617Val | |
| XM_011510778.1:c.1885A>G | XP_011509080.1:p.Met629Val | |
| XM_011510779.1:c.1885A>G | XP_011509081.1:p.Met629Val | |
| XM_011510780.1:c.1882A>G | XP_011509082.1:p.Met628Val | |
| XM_011510781.1:c.1867A>G | XP_011509083.1:p.Met623Val | |
| XM_011510782.1:c.1885A>G | XP_011509084.1:p.Met629Val | |
| XM_011510783.1:c.1717A>G | XP_011509085.1:p.Met573Val | |
| XM_011510784.1:c.1714A>G | XP_011509086.1:p.Met572Val | |
| XM_011510785.1:c.1699A>G | XP_011509087.1:p.Met567Val | |
| XM_011510786.1:c.1594A>G | XP_011509088.1:p.Met532Val | |
| XM_011510787.1:c.1591A>G | XP_011509089.1:p.Met531Val | |
| XM_011510788.1:c.1558A>G | XP_011509090.1:p.Met520Val | |
| XM_011510789.1:c.1408A>G | XP_011509091.1:p.Met470Val | |
| XM_011510790.1:c.892A>G | XP_011509092.1:p.Met298Val | |
| XM_011510791.1:c.892A>G | XP_011509093.1:p.Met298Val | |
| XM_011510792.1:c.1885A>G | XP_011509094.1:p.Met629Val | |
| XR_922888.1:n.2022A>G | ||
| XM_011510778.3:c.1885A>G | XP_011509080.1:p.Met629Val | |
| XM_011510779.2:c.1885A>G | XP_011509081.1:p.Met629Val | |
| XM_011510780.2:c.1882A>G | XP_011509082.1:p.Met628Val | |
| XM_011510781.3:c.1867A>G | XP_011509083.1:p.Met623Val | |
| XM_011510782.3:c.1885A>G | XP_011509084.1:p.Met629Val | |
| XM_011510783.3:c.1717A>G | XP_011509085.1:p.Met573Val | |
| XM_011510784.2:c.1714A>G | XP_011509086.1:p.Met572Val | |
| XM_011510785.3:c.1699A>G | XP_011509087.1:p.Met567Val | |
| XM_011510786.3:c.1594A>G | XP_011509088.1:p.Met532Val | |
| XM_011510789.2:c.1408A>G | XP_011509091.1:p.Met470Val | |
| XM_011510792.3:c.1885A>G | XP_011509094.1:p.Met629Val | |
| XM_017003568.1:c.1831A>G | XP_016859057.1:p.Met611Val | |
| XM_017003569.1:c.1663A>G | XP_016859058.1:p.Met555Val | |
| XM_017003570.1:c.1390A>G | XP_016859059.1:p.Met464Val | |
| XM_017003571.1:c.1240A>G | XP_016859060.1:p.Met414Val | |
| XM_017003572.1:c.892A>G | XP_016859061.1:p.Met298Val | |
| XM_017003573.1:c.892A>G | XP_016859062.1:p.Met298Val | |
| XM_017003574.1:c.892A>G | XP_016859063.1:p.Met298Val | |
| NM_015040.4:c.1849A>G MANE Select | NP_055855.2:p.Met617Val |