Linked Data
dbSNP Id:
rs755001757
ExAC:
1:12025632 G / A
gnomAD v2:
1-12025632-G-A
gnomAD v4:
1-11965575-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11965575G>A , CM000663.2:g.11965575G>A | GRCh38 |
| NC_000001.10:g.12025632G>A , CM000663.1:g.12025632G>A | GRCh37 |
| NC_000001.9:g.11948219G>A | NCBI36 |
| NG_008159.1:g.35887G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000196061.5:c.1566G>A MANE Select | ENSP00000196061.4:p.Glu522= | |
| ENST00000196061.4:c.1566G>A | ENSP00000196061.4:p.Glu522= | |
| ENST00000470133.1:n.180G>A | ||
| ENST00000491536.5:n.194G>A | ||
| NM_000302.3:c.1566G>A | NP_000293.2:p.Glu522= | |
| NM_001316320.1:c.1707G>A | NP_001303249.1:p.Glu569= | |
| XM_011541594.1:c.1647G>A | XP_011539896.1:p.Glu549= | |
| XM_024447707.1:c.900G>A | XP_024303475.1:p.Glu300= | |
| NM_000302.4:c.1566G>A MANE Select | NP_000293.2:p.Glu522= | |
| NM_001316320.2:c.1707G>A | NP_001303249.1:p.Glu569= |