Linked Data
ClinVar Variation Id:
9751
ClinVar RCV Id:
RCV000010405
dbSNP Id:
rs104894975
PubMed:
PMID:9150734
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.2787592A>T , CM000686.2:g.2787592A>T | GRCh38 |
| NC_000024.9:g.2655633A>T , CM000686.1:g.2655633A>T | GRCh37 |
| NC_000024.8:g.2715633A>T | NCBI36 |
| NG_011751.1:g.5160T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000679518.1:n.106+12853A>T | ||
| ENST00000680285.1:n.320-2157A>T | ||
| ENST00000680845.1:n.278A>T | ||
| ENST00000681787.1:n.106+12853A>T | ||
| ENST00000681940.1:n.106+12853A>T | ||
| ENST00000383070.2:c.12T>A MANE Select | ENSP00000372547.1:p.Tyr4Ter | |
| ENST00000383070.1:c.12T>A | ENSP00000372547.1:p.Tyr4Ter | |
| NM_003140.2:c.12T>A | NP_003131.1:p.Tyr4Ter | |
| NM_003140.3:c.12T>A MANE Select | NP_003131.1:p.Tyr4Ter |