Linked Data
dbSNP Id:
rs1420703885
gnomAD v2:
8-124714858-C-T
gnomAD v3:
8-123702618-C-T
gnomAD v4:
8-123702618-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.123702618C>T , CM000670.2:g.123702618C>T | GRCh38 |
| NC_000008.10:g.124714858C>T , CM000670.1:g.124714858C>T | GRCh37 |
| NC_000008.9:g.124784039C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000419625.6:c.186+24G>A MANE Select | ENSP00000390809.1:n.186+24G>A | |
| ENST00000262219.10:c.309+24G>A | ENSP00000262219.6:n.309+24G>A | |
| ENST00000419625.5:c.186+24G>A | ENSP00000390809.1:n.186+24G>A | |
| ENST00000520519.1:c.99+24G>A | ENSP00000429358.1:n.99+24G>A | |
| NM_001003954.1:c.309+24G>A | NP_001003954.1:n.309+24G>A | |
| NM_004306.2:c.186+24G>A | NP_004297.2:n.186+24G>A | |
| NM_001003954.2:c.309+24G>A | NP_001003954.1:n.309+24G>A | |
| NM_004306.3:c.186+24G>A | NP_004297.2:n.186+24G>A | |
| NM_004306.4:c.186+24G>A MANE Select | NP_004297.2:n.186+24G>A | |
| NM_001003954.3:c.309+24G>A | NP_001003954.1:n.309+24G>A |