Linked Data
ClinVar Variation Id:
1972479
ClinVar RCV Id:
RCV002746231
dbSNP Id:
rs1189683411
gnomAD v2:
8-19805728-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19948217C>T , CM000670.2:g.19948217C>T | GRCh38 |
| NC_000008.10:g.19805728C>T , CM000670.1:g.19805728C>T | GRCh37 |
| NC_000008.9:g.19850008C>T | NCBI36 |
| NG_008855.1:g.14147C>T | |
| NG_008855.2:g.51501C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.126C>T MANE Select | ENSP00000497642.1:p.Ala42= | |
| ENST00000311322.8:c.126C>T | ENSP00000309757.6:p.Ala42= | |
| ENST00000519773.1:c.*163C>T | ENSP00000431028.1:n.*163C>T | |
| ENST00000520959.5:c.-103C>T | ENSP00000428496.1:n.-103C>T | |
| ENST00000521994.1:n.311C>T | ||
| ENST00000522701.5:c.126C>T | ENSP00000428557.1:p.Ala42= | |
| ENST00000523696.1:n.195C>T | ||
| ENST00000524029.5:c.126C>T | ENSP00000428237.1:p.Ala42= | |
| NM_000237.2:c.126C>T | NP_000228.1:p.Ala42= | |
| NM_000237.3:c.126C>T MANE Select | NP_000228.1:p.Ala42= |