Linked Data
dbSNP Id:
rs1567671063
gnomAD v2:
17-6684008-C-T
gnomAD v3:
17-6780689-C-T
gnomAD v4:
17-6780689-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6780689C>T , CM000679.2:g.6780689C>T | GRCh38 |
| NC_000017.10:g.6684008C>T , CM000679.1:g.6684008C>T | GRCh37 |
| NC_000017.9:g.6624732C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321535.5:c.821C>T MANE Select | ENSP00000321386.4:p.Ala274Val | |
| ENST00000321535.4:c.821C>T | ENSP00000321386.4:p.Ala274Val | |
| NM_153230.2:c.821C>T | NP_694962.1:p.Ala274Val | |
| XM_011523697.1:c.821C>T | XP_011521999.1:p.Ala274Val | |
| XR_243544.3:n.999C>T | ||
| NM_153230.3:c.821C>T MANE Select | NP_694962.1:p.Ala274Val |