Linked Data
dbSNP Id:
rs10108954
gnomAD v2:
8-8722378-C-T
gnomAD v3:
8-8864868-C-T
gnomAD v4:
8-8864868-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.8864868C>T , CM000670.2:g.8864868C>T | GRCh38 |
| NC_000008.10:g.8722378C>T , CM000670.1:g.8722378C>T | GRCh37 |
| NC_000008.9:g.8759788C>T | NCBI36 |
| NG_009444.1:g.33754G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276282.7:c.2998+25193G>A MANE Select | ENSP00000276282.6:n.2998+25193G>A | |
| ENST00000276282.6:c.2998+25193G>A | ENSP00000276282.6:n.2998+25193G>A | |
| NM_004225.2:c.2998+25193G>A | NP_004216.2:n.2998+25193G>A | |
| XR_246634.2:n.3534+25193G>A | ||
| XM_024447330.1:c.2998+25193G>A | XP_024303098.1:n.2998+25193G>A | |
| NM_004225.3:c.2998+25193G>A MANE Select | NP_004216.2:n.2998+25193G>A |