Linked Data
ClinVar Variation Id:
3178357
ClinVar RCV Id:
RCV004472746
dbSNP Id:
rs989365390
gnomAD v2:
7-44621789-G-A
gnomAD v3:
7-44582190-G-A
gnomAD v4:
7-44582190-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44582190G>A , CM000669.2:g.44582190G>A | GRCh38 |
| NC_000007.13:g.44621789G>A , CM000669.1:g.44621789G>A | GRCh37 |
| NC_000007.12:g.44588314G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000457408.7:c.17C>T MANE Select | ENSP00000404042.2:p.Ala6Val | |
| ENST00000289577.9:c.17C>T | ENSP00000289577.5:p.Ala6Val | |
| ENST00000444131.2:n.52C>T | ||
| ENST00000457408.6:c.17C>T | ENSP00000404042.2:p.Ala6Val | |
| ENST00000477639.5:n.21C>T | ||
| ENST00000481238.1:c.17C>T | ENSP00000417443.1:p.Ala6Val | |
| NM_001303058.1:c.17C>T | NP_001289987.1:p.Ala6Val | |
| NM_001303059.1:c.17C>T | NP_001289988.1:p.Ala6Val | |
| NM_001303060.1:c.-384C>T | NP_001289989.1:n.-384C>T | |
| NM_001303061.1:c.-154C>T | NP_001289990.1:n.-154C>T | |
| NM_001303062.1:c.-384C>T | NP_001289991.1:n.-384C>T | |
| NM_182547.3:c.17C>T | NP_872353.2:p.Ala6Val | |
| NM_182547.4:c.17C>T MANE Select | NP_872353.2:p.Ala6Val | |
| NM_001303059.2:c.17C>T | NP_001289988.1:p.Ala6Val | |
| NM_001303061.2:c.-154C>T | NP_001289990.1:n.-154C>T | |
| NM_001303062.2:c.-384C>T | NP_001289991.1:n.-384C>T | |
| NM_001303058.2:c.17C>T | NP_001289987.1:p.Ala6Val | |
| NM_001303060.2:c.-384C>T | NP_001289989.1:n.-384C>T |