Linked Data
ClinVar Variation Id:
2168184
ClinVar RCV Id:
RCV003086822
dbSNP Id:
rs779549498
ExAC:
12:125435002 G / A
gnomAD v2:
12-125435002-G-A
gnomAD v3:
12-124950456-G-A
gnomAD v4:
12-124950456-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.124950456G>A , CM000674.2:g.124950456G>A | GRCh38 |
| NC_000012.11:g.125435002G>A , CM000674.1:g.125435002G>A | GRCh37 |
| NC_000012.10:g.124000955G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308736.7:c.3078C>T MANE Select | ENSP00000311135.2:p.Cys1026= | |
| ENST00000544745.2:c.2549C>T | ||
| ENST00000308736.6:c.3078C>T | ENSP00000311135.2:p.Cys1026= | |
| ENST00000539298.1:n.3178C>T | ||
| ENST00000542400.5:n.1692C>T | ||
| ENST00000544745.1:c.2439C>T | ENSP00000439009.1:p.Cys813= | |
| NM_032656.3:c.3078C>T | NP_116045.2:p.Cys1026= | |
| XM_005253590.2:c.3078C>T | XP_005253647.1:p.Cys1026= | |
| XM_005253590.3:c.3078C>T | XP_005253647.1:p.Cys1026= | |
| XR_001748819.1:n.3218C>T | ||
| XR_001748820.1:n.3171C>T | ||
| NM_032656.4:c.3078C>T MANE Select | NP_116045.2:p.Cys1026= |