Linked Data
dbSNP Id:
rs143499770
ExAC:
12:129299520 G / T
gnomAD v2:
12-129299520-G-T
gnomAD v3:
12-128814975-G-T
gnomAD v4:
12-128814975-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.128814975G>T , CM000674.2:g.128814975G>T | GRCh38 |
| NC_000012.11:g.129299520G>T , CM000674.1:g.129299520G>T | GRCh37 |
| NC_000012.10:g.127865473G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266771.10:c.642C>A MANE Select | ENSP00000266771.5:p.Ala214= | |
| ENST00000266771.9:c.642C>A | ENSP00000266771.5:p.Ala214= | |
| ENST00000366292.6:n.954C>A | ||
| ENST00000376740.8:c.221C>A | ||
| ENST00000376744.8:c.478C>A | ||
| ENST00000535272.1:n.436C>A | ||
| ENST00000539703.1:n.292C>A | ||
| NM_145648.3:c.642C>A | NP_663623.1:p.Ala214= | |
| XM_011537895.1:c.792C>A | XP_011536197.1:p.Ala264= | |
| XR_429081.2:n.665C>A | ||
| XR_944494.1:n.815C>A | ||
| XR_944495.1:n.815C>A | ||
| XR_944496.1:n.815C>A | ||
| XR_944497.1:n.815C>A | ||
| XM_017018791.1:c.792C>A | XP_016874280.1:p.Ala264= | |
| XM_017018792.1:c.792C>A | XP_016874281.1:p.Ala264= | |
| XM_017018793.1:c.642C>A | XP_016874282.1:p.Ala214= | |
| XR_002957287.1:n.665C>A | ||
| XR_944496.2:n.815C>A | ||
| NM_145648.4:c.642C>A MANE Select | NP_663623.1:p.Ala214= |