ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001063 (AFR)
Genomes Max Group AF
0.000008 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136676603G>T , CM000671.2:g.136676603G>T | GRCh38 |
| NC_000009.11:g.139571055G>T , CM000671.1:g.139571055G>T | GRCh37 |
| NC_000009.10:g.138690876G>T | NCBI36 |
| NG_008090.1:g.15857C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371696.7:c.570C>A MANE Select | ENSP00000360761.2:p.Tyr190Ter | |
| ENST00000371694.7:c.492+358C>A | ENSP00000360759.3:n.492+358C>A | |
| ENST00000371696.6:c.570C>A | ENSP00000360761.2:p.Tyr190Ter | |
| ENST00000472820.1:n.498C>A | ||
| ENST00000538402.1:c.570C>A | ENSP00000438919.1:p.Tyr190Ter | |
| NM_001012727.1:c.492+358C>A | NP_001012745.1:n.492+358C>A | |
| NM_006412.3:c.570C>A | NP_006403.2:p.Tyr190Ter | |
| NM_006412.4:c.570C>A MANE Select | NP_006403.2:p.Tyr190Ter | |
| NM_001012727.2:c.492+358C>A | NP_001012745.1:n.492+358C>A |