Linked Data
dbSNP Id:
rs200858323
gnomAD v2:
8-38001820-A-T
gnomAD v3:
8-38144302-A-T
gnomAD v4:
8-38144302-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38144302A>T , CM000670.2:g.38144302A>T | GRCh38 |
| NC_000008.10:g.38001820A>T , CM000670.1:g.38001820A>T | GRCh37 |
| NC_000008.9:g.38120977A>T | NCBI36 |
| NG_011827.1:g.11781T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276449.9:c.829T>A MANE Select | ENSP00000276449.3:p.Ser277Thr | |
| ENST00000276449.8:c.829T>A | ENSP00000276449.3:p.Ser277Thr | |
| ENST00000520114.1:n.2798T>A | ||
| ENST00000522050.1:c.671T>A | ||
| NM_000349.2:c.829T>A | NP_000340.2:p.Ser277Thr | |
| XM_006716392.1:c.735T>A | XP_006716455.1:p.Ser245Arg | |
| NM_000349.3:c.829T>A MANE Select | NP_000340.2:p.Ser277Thr |