ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197093242A>T , CM000663.2:g.197093242A>T | GRCh38 |
| NC_000001.10:g.197062372A>T , CM000663.1:g.197062372A>T | GRCh37 |
| NC_000001.9:g.195328995A>T | NCBI36 |
| NG_015867.1:g.58453T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367408.6:n.2391T>A | ||
| ENST00000367409.9:c.9104T>A MANE Select | ENSP00000356379.4:p.Leu3035Ter | |
| ENST00000680265.1:c.9326T>A | ENSP00000505384.1:p.Leu3109Ter | |
| ENST00000680710.1:c.9104T>A | ENSP00000506676.1:p.Leu3035Ter | |
| ENST00000294732.11:c.4349T>A | ENSP00000294732.7:p.Leu1450Ter | |
| ENST00000367408.5:c.2099T>A | ENSP00000356378.1:p.Leu700Ter | |
| ENST00000367409.8:c.9104T>A | ENSP00000356379.4:p.Leu3035Ter | |
| ENST00000612785.1:c.3062T>A | ENSP00000479244.1:p.Leu1021Ter | |
| NM_001206846.1:c.4349T>A | NP_001193775.1:p.Leu1450Ter | |
| NM_018136.4:c.9104T>A | NP_060606.3:p.Leu3035Ter | |
| NM_018136.5:c.9104T>A MANE Select | NP_060606.3:p.Leu3035Ter | |
| NM_001206846.2:c.4349T>A | NP_001193775.1:p.Leu1450Ter |