Linked Data
ClinVar Variation Id:
975500
ClinVar RCV Id:
RCV001252163
dbSNP Id:
rs1656767645
gnomAD v4:
1-197091040-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197091040C>A , CM000663.2:g.197091040C>A | GRCh38 |
| NC_000001.10:g.197060170C>A , CM000663.1:g.197060170C>A | GRCh37 |
| NC_000001.9:g.195326793C>A | NCBI36 |
| NG_015867.1:g.60655G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367408.6:n.2733G>T | ||
| ENST00000367409.9:c.9446G>T MANE Select | ENSP00000356379.4:p.Arg3149Ile | |
| ENST00000680265.1:c.9668G>T | ENSP00000505384.1:p.Arg3223Ile | |
| ENST00000680710.1:c.9422G>T | ENSP00000506676.1:p.Arg3141Ile | |
| ENST00000294732.11:c.4691G>T | ENSP00000294732.7:p.Arg1564Ile | |
| ENST00000367408.5:c.2441G>T | ENSP00000356378.1:p.Arg814Ile | |
| ENST00000367409.8:c.9446G>T | ENSP00000356379.4:p.Arg3149Ile | |
| ENST00000612785.1:c.3404G>T | ENSP00000479244.1:p.Arg1135Ile | |
| NM_001206846.1:c.4691G>T | NP_001193775.1:p.Arg1564Ile | |
| NM_018136.4:c.9446G>T | NP_060606.3:p.Arg3149Ile | |
| NM_018136.5:c.9446G>T MANE Select | NP_060606.3:p.Arg3149Ile | |
| NM_001206846.2:c.4691G>T | NP_001193775.1:p.Arg1564Ile |