Linked Data
ClinVar Variation Id:
1055013
ClinVar RCV Id:
RCV001363614
dbSNP Id:
rs940695600
gnomAD v2:
6-32810821-C-T
gnomAD v3:
6-32843044-C-T
gnomAD v4:
6-32843044-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32843044C>T , CM000668.2:g.32843044C>T | GRCh38 |
| NC_000006.11:g.32810821C>T , CM000668.1:g.32810821C>T | GRCh37 |
| NC_000006.10:g.32918799C>T | NCBI36 |
| NG_009793.3:g.727G>A | |
| NG_028165.1:g.6892G>A | |
| NG_009793.4:g.727G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650793.2:n.214G>A | ||
| ENST00000697612.1:n.892G>A | ||
| ENST00000374881.3:c.181G>A | ENSP00000364015.2:p.Val61Ile | |
| ENST00000374882.8:c.193G>A MANE Select | ENSP00000364016.4:p.Val65Ile | |
| ENST00000650411.1:n.1514G>A | ||
| ENST00000650793.1:n.214G>A | ||
| ENST00000374881.2:c.181G>A | ENSP00000364015.2:p.Val61Ile | |
| ENST00000374882.7:c.193G>A | ENSP00000364016.3:p.Val65Ile | |
| ENST00000395339.7:c.193G>A | ENSP00000378748.3:p.Val65Ile | |
| ENST00000484003.1:n.419G>A | ||
| NM_004159.4:c.181G>A | NP_004150.1:p.Val61Ile | |
| NM_148919.3:c.193G>A | NP_683720.2:p.Val65Ile | |
| NM_148919.4:c.193G>A MANE Select | NP_683720.2:p.Val65Ile | |
| NM_004159.5:c.181G>A | NP_004150.1:p.Val61Ile |