Linked Data
ClinVar Variation Id:
1374721
ClinVar RCV Id:
RCV001900674
dbSNP Id:
rs1947324005
gnomAD v3:
12-49950936-C-T
gnomAD v4:
12-49950936-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49950936C>T , CM000674.2:g.49950936C>T | GRCh38 |
| NC_000012.11:g.50344719C>T , CM000674.1:g.50344719C>T | GRCh37 |
| NC_000012.10:g.48630986C>T | NCBI36 |
| NG_008913.1:g.5196C>T , LRG_717:g.5196C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000199280.4:c.106C>T MANE Select | ENSP00000199280.3:p.Gln36Ter | |
| ENST00000199280.3:c.106C>T | ENSP00000199280.3:p.Gln36Ter | |
| ENST00000550862.1:c.106C>T | ENSP00000450022.1:p.Gln36Ter | |
| ENST00000551526.5:c.106C>T | ENSP00000447148.1:p.Gln36Ter | |
| NM_000486.5:c.106C>T , LRG_717t1:c.106C>T | NP_000477.1:p.Gln36Ter | |
| NM_000486.6:c.106C>T MANE Select | NP_000477.1:p.Gln36Ter |