Linked Data
ClinVar Variation Id:
4682
ClinVar RCV Id:
RCV000004946
dbSNP Id:
rs119477052
PubMed:
PMID:11381253
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.77205394T>A , CM000671.2:g.77205394T>A | GRCh38 |
| NC_000009.11:g.79820310T>A , CM000671.1:g.79820310T>A | GRCh37 |
| NC_000009.10:g.79010130T>A | NCBI36 |
| NG_008931.1:g.32950T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360280.8:c.269T>A MANE Select | ENSP00000353422.3:p.Ile90Lys | |
| ENST00000643348.1:c.269T>A | ENSP00000493592.1:p.Ile90Lys | |
| ENST00000645632.1:c.269T>A | ENSP00000496361.1:p.Ile90Lys | |
| ENST00000357409.9:c.269T>A | ENSP00000349985.5:p.Ile90Lys | |
| ENST00000360280.7:c.269T>A | ENSP00000353422.3:p.Ile90Lys | |
| ENST00000376634.8:c.269T>A | ENSP00000365821.4:p.Ile90Lys | |
| ENST00000376636.7:c.269T>A | ENSP00000365823.3:p.Ile90Lys | |
| NM_001018037.1:c.269T>A | NP_001018047.1:p.Ile90Lys | |
| NM_001018038.2:c.269T>A | NP_001018048.1:p.Ile90Lys | |
| NM_015186.3:c.269T>A | NP_056001.1:p.Ile90Lys | |
| NM_033305.2:c.269T>A | NP_150648.2:p.Ile90Lys | |
| XR_242579.2:n.621T>A | ||
| XR_242580.3:n.621T>A | ||
| XR_929740.1:n.621T>A | ||
| XR_001746259.1:n.621T>A | ||
| XR_001746260.1:n.621T>A | ||
| NM_033305.3:c.269T>A MANE Select | NP_150648.2:p.Ile90Lys | |
| NM_001018037.2:c.269T>A | NP_001018047.1:p.Ile90Lys | |
| NM_001018038.3:c.269T>A | NP_001018048.1:p.Ile90Lys | |
| NM_015186.4:c.269T>A | NP_056001.1:p.Ile90Lys |