Linked Data
dbSNP Id:
rs770692117
ExAC:
17:39740582 G / A
gnomAD v2:
17-39740582-G-A
gnomAD v4:
17-41584330-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41584330G>A , CM000679.2:g.41584330G>A | GRCh38 |
| NC_000017.10:g.39740582G>A , CM000679.1:g.39740582G>A | GRCh37 |
| NC_000017.9:g.36994108G>A | NCBI36 |
| NG_008624.1:g.7566C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.692C>T MANE Select | ENSP00000167586.6:p.Ala231Val | |
| ENST00000167586.6:c.692C>T | ENSP00000167586.6:p.Ala231Val | |
| ENST00000476662.1:n.142C>T | ||
| NM_000526.4:c.692C>T | NP_000517.2:p.Ala231Val | |
| NM_000526.5:c.692C>T MANE Select | NP_000517.3:p.Ala231Val |