Linked Data
ClinVar Variation Id:
1155832
ClinVar RCV Id:
RCV001498272
dbSNP Id:
rs533231493
gnomAD v4:
13-20189558-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20189558C>G , CM000675.2:g.20189558C>G | GRCh38 |
| NC_000013.10:g.20763697C>G , CM000675.1:g.20763697C>G | GRCh37 |
| NC_000013.9:g.19661697C>G | NCBI36 |
| NG_008358.1:g.8418G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382844.2:c.24G>C | ENSP00000372295.1:p.Thr8= | |
| ENST00000382848.5:c.24G>C MANE Select | ENSP00000372299.4:p.Thr8= | |
| ENST00000382844.1:c.24G>C | ENSP00000372295.1:p.Thr8= | |
| ENST00000382848.4:c.24G>C | ENSP00000372299.4:p.Thr8= | |
| NM_004004.5:c.24G>C | NP_003995.2:p.Thr8= | |
| XM_011535049.1:c.24G>C | XP_011533351.1:p.Thr8= | |
| XM_011535049.2:c.24G>C | XP_011533351.1:p.Thr8= | |
| NM_004004.6:c.24G>C MANE Select | NP_003995.2:p.Thr8= |