Linked Data
ClinVar Variation Id:
44730
ClinVar RCV Id:
RCV000037822
dbSNP Id:
rs397516870
ExAC:
13:20763518 T / C
gnomAD v2:
13-20763518-T-C
gnomAD v3:
13-20189379-T-C
gnomAD v4:
13-20189379-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20189379T>C , CM000675.2:g.20189379T>C | GRCh38 |
| NC_000013.10:g.20763518T>C , CM000675.1:g.20763518T>C | GRCh37 |
| NC_000013.9:g.19661518T>C | NCBI36 |
| NG_008358.1:g.8597A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382844.2:c.203A>G | ENSP00000372295.1:p.Tyr68Cys | |
| ENST00000382848.5:c.203A>G MANE Select | ENSP00000372299.4:p.Tyr68Cys | |
| ENST00000382844.1:c.203A>G | ENSP00000372295.1:p.Tyr68Cys | |
| ENST00000382848.4:c.203A>G | ENSP00000372299.4:p.Tyr68Cys | |
| NM_004004.5:c.203A>G | NP_003995.2:p.Tyr68Cys | |
| XM_011535049.1:c.203A>G | XP_011533351.1:p.Tyr68Cys | |
| XM_011535049.2:c.203A>G | XP_011533351.1:p.Tyr68Cys | |
| NM_004004.6:c.203A>G MANE Select | NP_003995.2:p.Tyr68Cys |