Linked Data
dbSNP Id:
rs200654409
gnomAD v2:
17-39739607-G-A
gnomAD v3:
17-41583355-G-A
gnomAD v4:
17-41583355-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41583355G>A , CM000679.2:g.41583355G>A | GRCh38 |
| NC_000017.10:g.39739607G>A , CM000679.1:g.39739607G>A | GRCh37 |
| NC_000017.9:g.36993133G>A | NCBI36 |
| NG_008624.1:g.8541C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.1154C>T MANE Select | ENSP00000167586.6:p.Ala385Val | |
| ENST00000167586.6:c.1154C>T | ENSP00000167586.6:p.Ala385Val | |
| ENST00000441550.2:n.101C>T | ||
| ENST00000476662.1:n.604C>T | ||
| NM_000526.4:c.1154C>T | NP_000517.2:p.Ala385Val | |
| NM_000526.5:c.1154C>T MANE Select | NP_000517.3:p.Ala385Val |