Linked Data
dbSNP Id:
rs35439692
ExAC:
12:129299326 C / A
gnomAD v2:
12-129299326-C-A
gnomAD v3:
12-128814781-C-A
gnomAD v4:
12-128814781-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.128814781C>A , CM000674.2:g.128814781C>A | GRCh38 |
| NC_000012.11:g.129299326C>A , CM000674.1:g.129299326C>A | GRCh37 |
| NC_000012.10:g.127865279C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266771.10:c.836G>T MANE Select | ENSP00000266771.5:p.Ser279Ile | |
| ENST00000266771.9:c.836G>T | ENSP00000266771.5:p.Ser279Ile | |
| ENST00000366292.6:n.1148G>T | ||
| ENST00000376740.8:c.415G>T | ||
| ENST00000376744.8:c.672G>T | ||
| ENST00000539703.1:n.486G>T | ||
| ENST00000614634.1:c.-7G>T | ENSP00000483143.1:n.-7G>T | |
| NM_145648.3:c.836G>T | NP_663623.1:p.Ser279Ile | |
| XM_011537895.1:c.986G>T | XP_011536197.1:p.Ser329Ile | |
| XR_429081.2:n.859G>T | ||
| XR_944494.1:n.1009G>T | ||
| XR_944495.1:n.1009G>T | ||
| XR_944496.1:n.1009G>T | ||
| XR_944497.1:n.1009G>T | ||
| XM_017018791.1:c.986G>T | XP_016874280.1:p.Ser329Ile | |
| XM_017018792.1:c.986G>T | XP_016874281.1:p.Ser329Ile | |
| XM_017018793.1:c.836G>T | XP_016874282.1:p.Ser279Ile | |
| XR_002957287.1:n.859G>T | ||
| XR_944496.2:n.1009G>T | ||
| NM_145648.4:c.836G>T MANE Select | NP_663623.1:p.Ser279Ile |