Linked Data
dbSNP Id:
rs954409145
gnomAD v2:
1-160206934-C-T
gnomAD v3:
1-160237144-C-T
gnomAD v4:
1-160237144-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160237144C>T , CM000663.2:g.160237144C>T | GRCh38 |
| NC_000001.10:g.160206934C>T , CM000663.1:g.160206934C>T | GRCh37 |
| NC_000001.9:g.158473558C>T | NCBI36 |
| NG_034154.1:g.30417G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368074.6:c.950G>A MANE Select | ENSP00000357053.1:p.Arg317His | |
| ENST00000556710.6:c.*1534G>A | ENSP00000451235.2:n.*1534G>A | |
| ENST00000647676.1:c.1288G>A | ENSP00000497162.1:n.1288G>A | |
| ENST00000326837.6:c.950G>A | ENSP00000318227.2:p.Arg317His | |
| ENST00000368073.7:c.950G>A | ENSP00000357052.3:p.Arg317His | |
| ENST00000368074.5:c.950G>A | ENSP00000357053.1:p.Arg317His | |
| ENST00000461888.5:c.950G>A | ENSP00000476407.1:p.Arg317His | |
| ENST00000466253.1:n.465G>A | ||
| ENST00000556710.5:c.1412G>A | ENSP00000451235.1:p.Arg471His | |
| NM_015726.3:c.950G>A | NP_056541.2:p.Arg317His | |
| NR_028103.1:n.1462G>A | ||
| NR_028104.1:n.1388G>A | ||
| NM_015726.4:c.950G>A MANE Select | NP_056541.2:p.Arg317His | |
| NR_028103.2:n.1483G>A | ||
| NR_028104.2:n.1409G>A |