Linked Data
ClinVar Variation Id:
2336729
ClinVar RCV Id:
RCV004180030
dbSNP Id:
rs1002878998
gnomAD v4:
2-127858081-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127858081T>A , CM000664.2:g.127858081T>A | GRCh38 |
| NC_000002.11:g.128615655T>A , CM000664.1:g.128615655T>A | GRCh37 |
| NC_000002.10:g.128332125T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272645.9:c.20A>T MANE Select | ENSP00000272645.3:p.Asp7Val | |
| ENST00000272645.8:c.20A>T | ENSP00000272645.3:p.Asp7Val | |
| ENST00000409955.1:c.20A>T | ENSP00000387323.1:p.Asp7Val | |
| ENST00000487079.1:n.39A>T | ||
| NM_004805.3:c.20A>T | NP_004796.1:p.Asp7Val | |
| NM_004805.4:c.20A>T MANE Select | NP_004796.1:p.Asp7Val |