Linked Data
dbSNP Id:
rs199661368
ExAC:
12:129299332 C / T
gnomAD v2:
12-129299332-C-T
gnomAD v3:
12-128814787-C-T
gnomAD v4:
12-128814787-C-T
COSMIC:
COSM936911
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.128814787C>T , CM000674.2:g.128814787C>T | GRCh38 |
| NC_000012.11:g.129299332C>T , CM000674.1:g.129299332C>T | GRCh37 |
| NC_000012.10:g.127865285C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266771.10:c.830G>A MANE Select | ENSP00000266771.5:p.Arg277His | |
| ENST00000266771.9:c.830G>A | ENSP00000266771.5:p.Arg277His | |
| ENST00000366292.6:n.1142G>A | ||
| ENST00000376740.8:c.409G>A | ||
| ENST00000376744.8:c.666G>A | ||
| ENST00000539703.1:n.480G>A | ||
| ENST00000614634.1:c.-13G>A | ENSP00000483143.1:n.-13G>A | |
| NM_145648.3:c.830G>A | NP_663623.1:p.Arg277His | |
| XM_011537895.1:c.980G>A | XP_011536197.1:p.Arg327His | |
| XR_429081.2:n.853G>A | ||
| XR_944494.1:n.1003G>A | ||
| XR_944495.1:n.1003G>A | ||
| XR_944496.1:n.1003G>A | ||
| XR_944497.1:n.1003G>A | ||
| XM_017018791.1:c.980G>A | XP_016874280.1:p.Arg327His | |
| XM_017018792.1:c.980G>A | XP_016874281.1:p.Arg327His | |
| XM_017018793.1:c.830G>A | XP_016874282.1:p.Arg277His | |
| XR_002957287.1:n.853G>A | ||
| XR_944496.2:n.1003G>A | ||
| NM_145648.4:c.830G>A MANE Select | NP_663623.1:p.Arg277His |