Linked Data
ClinVar Variation Id:
901578
ClinVar RCV Id:
RCV001147556
dbSNP Id:
rs201071538
ExAC:
3:98304429 T / A
gnomAD v2:
3-98304429-T-A
gnomAD v3:
3-98585585-T-A
gnomAD v4:
3-98585585-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.98585585T>A , CM000665.2:g.98585585T>A | GRCh38 |
| NC_000003.11:g.98304429T>A , CM000665.1:g.98304429T>A | GRCh37 |
| NC_000003.10:g.99787119T>A | NCBI36 |
| NG_015994.1:g.13027A>T | |
| NG_015994.2:g.13027A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647941.2:c.1028A>T MANE Select | ENSP00000497326.1:p.Asp343Val | |
| ENST00000264193.2:c.1028A>T | ENSP00000264193.2:p.Asp343Val | |
| ENST00000510489.1:n.278A>T | ||
| NM_000097.5:c.1028A>T | NP_000088.3:p.Asp343Val | |
| XM_005247125.3:c.1028A>T | XP_005247182.1:p.Asp343Val | |
| NM_000097.7:c.1028A>T MANE Select | NP_000088.3:p.Asp343Val | |
| XM_005247125.4:c.1028A>T | XP_005247182.1:p.Asp343Val | |
| XR_001740025.2:n.1199A>T | ||
| XR_001740026.1:n.1763A>T | ||
| XR_001740027.1:n.1303A>T | ||
| XR_001740028.1:n.1269A>T |