Linked Data
ClinVar Variation Id:
3082273
ClinVar RCV Id:
RCV004373612
dbSNP Id:
rs776239184
ExAC:
12:125434784 C / T
gnomAD v2:
12-125434784-C-T
gnomAD v3:
12-124950238-C-T
gnomAD v4:
12-124950238-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.124950238C>T , CM000674.2:g.124950238C>T | GRCh38 |
| NC_000012.11:g.125434784C>T , CM000674.1:g.125434784C>T | GRCh37 |
| NC_000012.10:g.124000737C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308736.7:c.3127G>A MANE Select | ENSP00000311135.2:p.Val1043Met | |
| ENST00000544745.2:c.2598G>A | ||
| ENST00000308736.6:c.3127G>A | ENSP00000311135.2:p.Val1043Met | |
| ENST00000539298.1:n.3227G>A | ||
| ENST00000542400.5:n.1741G>A | ||
| ENST00000544745.1:c.2488G>A | ENSP00000439009.1:p.Val830Met | |
| NM_032656.3:c.3127G>A | NP_116045.2:p.Val1043Met | |
| XM_005253590.2:c.3127G>A | XP_005253647.1:p.Val1043Met | |
| XM_005253590.3:c.3127G>A | XP_005253647.1:p.Val1043Met | |
| XR_001748819.1:n.3267G>A | ||
| XR_001748820.1:n.3220G>A | ||
| NM_032656.4:c.3127G>A MANE Select | NP_116045.2:p.Val1043Met |