Linked Data
dbSNP Id:
rs757794260
gnomAD v2:
11-17574968-G-A
gnomAD v3:
11-17553421-G-A
gnomAD v4:
11-17553421-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17553421G>A , CM000673.2:g.17553421G>A | GRCh38 |
| NC_000011.9:g.17574968G>A , CM000673.1:g.17574968G>A | GRCh37 |
| NC_000011.8:g.17531544G>A | NCBI36 |
| NG_033191.1:g.11049G>A | |
| NG_033191.2:g.11049G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399391.7:c.478G>A | ENSP00000382323.2:p.Val160Met | |
| ENST00000399397.6:c.442G>A MANE Select | ENSP00000382329.2:p.Val148Met | |
| ENST00000399391.6:c.478G>A | ENSP00000382323.2:p.Val160Met | |
| ENST00000399397.5:c.442G>A | ENSP00000382329.2:p.Val148Met | |
| ENST00000428619.1:c.259G>A | ENSP00000399057.2:p.Val87Met | |
| ENST00000498332.5:n.348G>A | ||
| NM_001277269.1:c.478G>A | NP_001264198.1:p.Val160Met | |
| NM_001292063.1:c.442G>A | NP_001278992.1:p.Val148Met | |
| NM_001277269.2:c.478G>A | NP_001264198.1:p.Val160Met | |
| NM_001292063.2:c.442G>A MANE Select | NP_001278992.1:p.Val148Met |