ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136676670C>T , CM000671.2:g.136676670C>T | GRCh38 |
| NC_000009.11:g.139571122C>T , CM000671.1:g.139571122C>T | GRCh37 |
| NC_000009.10:g.138690943C>T | NCBI36 |
| NG_008090.1:g.15790G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371696.7:c.503G>A MANE Select | ENSP00000360761.2:p.Trp168Ter | |
| ENST00000371694.7:c.492+291G>A | ENSP00000360759.3:n.492+291G>A | |
| ENST00000371696.6:c.503G>A | ENSP00000360761.2:p.Trp168Ter | |
| ENST00000472820.1:n.431G>A | ||
| ENST00000538402.1:c.503G>A | ENSP00000438919.1:p.Trp168Ter | |
| NM_001012727.1:c.492+291G>A | NP_001012745.1:n.492+291G>A | |
| NM_006412.3:c.503G>A | NP_006403.2:p.Trp168Ter | |
| NM_006412.4:c.503G>A MANE Select | NP_006403.2:p.Trp168Ter | |
| NM_001012727.2:c.492+291G>A | NP_001012745.1:n.492+291G>A |