Linked Data
dbSNP Id:
rs368620920
ExAC:
6:151936605 A / G
gnomAD v2:
6-151936605-A-G
gnomAD v3:
6-151615470-A-G
gnomAD v4:
6-151615470-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.151615470A>G , CM000668.2:g.151615470A>G | GRCh38 |
| NC_000006.11:g.151936605A>G , CM000668.1:g.151936605A>G | GRCh37 |
| NC_000006.10:g.151978298A>G | NCBI36 |
| NG_021198.1:g.126431A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000239374.8:c.1738A>G MANE Select | ENSP00000239374.6:p.Ile580Val | |
| ENST00000239374.7:c.1738A>G | ENSP00000239374.6:p.Ile580Val | |
| ENST00000537358.1:n.524A>G | ||
| NM_025059.3:c.1738A>G | NP_079335.2:p.Ile580Val | |
| XM_011536147.1:c.1756A>G | XP_011534449.1:p.Ile586Val | |
| XM_011536148.1:c.1555A>G | XP_011534450.1:p.Ile519Val | |
| XM_011536147.2:c.1756A>G | XP_011534449.1:p.Ile586Val | |
| XM_011536148.2:c.1555A>G | XP_011534450.1:p.Ile519Val | |
| XR_001743865.1:n.129+1251T>C | ||
| NM_025059.4:c.1738A>G MANE Select | NP_079335.2:p.Ile580Val |