Linked Data
dbSNP Id:
rs772277744
ExAC:
8:38003504 C / A
gnomAD v2:
8-38003504-C-A
gnomAD v4:
8-38145986-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38145986C>A , CM000670.2:g.38145986C>A | GRCh38 |
| NC_000008.10:g.38003504C>A , CM000670.1:g.38003504C>A | GRCh37 |
| NC_000008.9:g.38122661C>A | NCBI36 |
| NG_011827.1:g.10097G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000276449.9:c.627G>T MANE Select | ENSP00000276449.3:p.Met209Ile | |
| ENST00000276449.8:c.627G>T | ENSP00000276449.3:p.Met209Ile | |
| ENST00000520114.1:n.1114G>T | ||
| ENST00000522050.1:c.563G>T | ||
| NM_000349.2:c.627G>T | NP_000340.2:p.Met209Ile | |
| XM_006716392.1:c.627G>T | XP_006716455.1:p.Met209Ile | |
| NM_000349.3:c.627G>T MANE Select | NP_000340.2:p.Met209Ile |