Linked Data
dbSNP Id:
rs1285808654
gnomAD v2:
8-8722426-G-A
gnomAD v3:
8-8864916-G-A
gnomAD v4:
8-8864916-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.8864916G>A , CM000670.2:g.8864916G>A | GRCh38 |
| NC_000008.10:g.8722426G>A , CM000670.1:g.8722426G>A | GRCh37 |
| NC_000008.9:g.8759836G>A | NCBI36 |
| NG_009444.1:g.33706C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000276282.7:c.2998+25145C>T MANE Select | ENSP00000276282.6:n.2998+25145C>T | |
| ENST00000276282.6:c.2998+25145C>T | ENSP00000276282.6:n.2998+25145C>T | |
| NM_004225.2:c.2998+25145C>T | NP_004216.2:n.2998+25145C>T | |
| XR_246634.2:n.3534+25145C>T | ||
| XM_024447330.1:c.2998+25145C>T | XP_024303098.1:n.2998+25145C>T | |
| NM_004225.3:c.2998+25145C>T MANE Select | NP_004216.2:n.2998+25145C>T |