Linked Data
ClinVar Variation Id:
3163494
ClinVar RCV Id:
RCV004451354
dbSNP Id:
rs775502766
gnomAD v2:
11-62763513-C-A
gnomAD v3:
11-62996041-C-A
gnomAD v4:
11-62996041-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.62996041C>A , CM000673.2:g.62996041C>A | GRCh38 |
| NC_000011.9:g.62763513C>A , CM000673.1:g.62763513C>A | GRCh37 |
| NC_000011.8:g.62520089C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336232.7:c.873G>T MANE Select | ENSP00000337335.2:p.Arg291Ser | |
| ENST00000311438.12:c.873G>T | ENSP00000311463.8:p.Arg291Ser | |
| ENST00000336232.6:c.873G>T | ENSP00000337335.2:p.Arg291Ser | |
| ENST00000430500.6:c.873G>T | ENSP00000398548.2:p.Arg291Ser | |
| ENST00000535878.5:c.504G>T | ENSP00000443368.1:p.Arg168Ser | |
| ENST00000539841.1:n.691G>T | ||
| ENST00000545207.5:c.600G>T | ENSP00000441658.1:p.Arg200Ser | |
| NM_001184732.1:c.873G>T | NP_001171661.1:p.Arg291Ser | |
| NM_001184733.1:c.600G>T | NP_001171662.1:p.Arg200Ser | |
| NM_001184736.1:c.504G>T | NP_001171665.1:p.Arg168Ser | |
| NM_004254.3:c.873G>T | NP_004245.2:p.Arg291Ser | |
| XM_011545364.1:c.504G>T | XP_011543666.1:p.Arg168Ser | |
| NM_004254.4:c.873G>T MANE Select | NP_004245.2:p.Arg291Ser | |
| NM_001184732.2:c.873G>T | NP_001171661.1:p.Arg291Ser | |
| NM_001184733.2:c.600G>T | NP_001171662.1:p.Arg200Ser | |
| NM_001184736.2:c.504G>T | NP_001171665.1:p.Arg168Ser |