Linked Data
dbSNP Id:
rs1237961867
gnomAD v2:
8-38002748-C-T
gnomAD v4:
8-38145230-C-T
COSMIC:
COSM1099545
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38145230C>T , CM000670.2:g.38145230C>T | GRCh38 |
| NC_000008.10:g.38002748C>T , CM000670.1:g.38002748C>T | GRCh37 |
| NC_000008.9:g.38121905C>T | NCBI36 |
| NG_011827.1:g.10853G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000276449.9:c.736G>A MANE Select | ENSP00000276449.3:p.Asp246Asn | |
| ENST00000276449.8:c.736G>A | ENSP00000276449.3:p.Asp246Asn | |
| ENST00000520114.1:n.1870G>A | ||
| ENST00000522050.1:c.586+733G>A | ||
| NM_000349.2:c.736G>A | NP_000340.2:p.Asp246Asn | |
| XM_006716392.1:c.650+733G>A | XP_006716455.1:n.650+733G>A | |
| NM_000349.3:c.736G>A MANE Select | NP_000340.2:p.Asp246Asn |