Linked Data
dbSNP Id:
rs745781185
ExAC:
15:22969268 G / A
gnomAD v2:
15-22969268-G-A
gnomAD v3:
15-22903800-C-T
gnomAD v4:
15-22903800-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.22903800C>T , CM000677.2:g.22903800C>T | GRCh38 |
| NC_000015.9:g.22969268G>A , CM000677.1:g.22969268G>A | GRCh37 |
| NC_000015.8:g.20520709G>A | NCBI36 |
| NG_054889.1:g.82107G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000612288.2:c.2488G>A | ENSP00000479802.2:p.Val830Met | |
| ENST00000617928.5:c.2494G>A MANE Select | ENSP00000481038.1:p.Val832Met | |
| ENST00000610365.4:c.2494G>A | ENSP00000478779.1:p.Val832Met | |
| ENST00000617556.4:c.1201G>A | ENSP00000480525.1:p.Val401Met | |
| ENST00000617928.4:c.2494G>A | ENSP00000481038.1:p.Val832Met | |
| ENST00000619290.4:n.887G>A | ||
| ENST00000619348.4:n.1641G>A | ||
| NM_001033028.1:c.1201G>A | NP_001028200.1:p.Val401Met | |
| NM_001287810.1:c.2494G>A | NP_001274739.1:p.Val832Met | |
| NM_014608.3:c.2494G>A | NP_055423.1:p.Val832Met | |
| XM_011543873.1:c.2893G>A | XP_011542175.1:p.Val965Met | |
| XM_011543874.1:c.2893G>A | XP_011542176.1:p.Val965Met | |
| XM_011543875.1:c.2893G>A | XP_011542177.1:p.Val965Met | |
| XM_011543876.1:c.2488G>A | XP_011542178.1:p.Val830Met | |
| NM_001033028.2:c.1201G>A | NP_001028200.1:p.Val401Met | |
| NM_001287810.3:c.2494G>A | NP_001274739.1:p.Val832Met | |
| NM_001324119.2:c.2596G>A | NP_001311048.1:p.Val866Met | |
| NM_001324120.2:c.2494G>A | NP_001311049.1:p.Val832Met | |
| NM_001324122.2:c.814G>A | NP_001311051.1:p.Val272Met | |
| NM_001324123.2:c.2494G>A | NP_001311052.1:p.Val832Met | |
| NM_001324124.2:c.2404G>A | NP_001311053.1:p.Val802Met | |
| NM_001324125.2:c.2128G>A | NP_001311054.1:p.Val710Met | |
| NM_001324126.2:c.2392G>A | NP_001311055.1:p.Val798Met | |
| NM_014608.5:c.2494G>A | NP_055423.1:p.Val832Met | |
| XM_011543873.3:c.2893G>A | XP_011542175.1:p.Val965Met | |
| XM_011543874.2:c.2893G>A | XP_011542176.1:p.Val965Met | |
| XM_011543876.3:c.2590G>A | XP_011542178.2:p.Val864Met | |
| XM_017022023.2:c.2995G>A | XP_016877512.1:p.Val999Met | |
| XM_017022024.2:c.2893G>A | XP_016877513.1:p.Val965Met | |
| XM_024449876.1:c.2893G>A | XP_024305644.1:p.Val965Met | |
| XM_024449877.1:c.2494G>A | XP_024305645.1:p.Val832Met | |
| NM_014608.6:c.2494G>A MANE Select | NP_055423.1:p.Val832Met | |
| NM_001287810.4:c.2494G>A | NP_001274739.1:p.Val832Met | |
| NM_001324122.3:c.814G>A | NP_001311051.1:p.Val272Met | |
| NM_001324123.3:c.2494G>A | NP_001311052.1:p.Val832Met | |
| NM_001324124.3:c.2404G>A | NP_001311053.1:p.Val802Met | |
| NM_001324125.3:c.2128G>A | NP_001311054.1:p.Val710Met | |
| NM_001324126.3:c.2392G>A | NP_001311055.1:p.Val798Met | |
| NM_001033028.3:c.1201G>A | NP_001028200.1:p.Val401Met |