Linked Data
dbSNP Id:
rs537374436
gnomAD v2:
8-87586572-C-T
gnomAD v3:
8-86574344-C-T
gnomAD v4:
8-86574344-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86574344C>T , CM000670.2:g.86574344C>T | GRCh38 |
| NC_000008.10:g.87586572C>T , CM000670.1:g.87586572C>T | GRCh37 |
| NC_000008.9:g.87655688C>T | NCBI36 |
| NG_016980.1:g.174332G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320005.6:c.*1460G>A MANE Select | ENSP00000316605.5:n.*1460G>A | |
| ENST00000681546.1:n.3710G>A | ||
| ENST00000681746.1:c.*2301G>A | ENSP00000505959.1:n.*2301G>A | |
| ENST00000320005.5:c.*1460G>A | ENSP00000316605.5:n.*1460G>A | |
| ENST00000517327.5:c.276+4345G>A | ENSP00000428329.1:n.276+4345G>A | |
| NM_019098.4:c.*1460G>A | NP_061971.3:n.*1460G>A | |
| XM_011517138.1:c.*1460G>A | XP_011515440.1:n.*1460G>A | |
| XM_011517138.2:c.*1460G>A | XP_011515440.1:n.*1460G>A | |
| NM_019098.5:c.*1460G>A MANE Select | NP_061971.3:n.*1460G>A |