Linked Data
ClinVar Variation Id:
13257
dbSNP Id:
rs137853201
ExAC:
2:98354040 G / A
gnomAD v2:
2-98354040-G-A
gnomAD v4:
2-97737577-G-A
PubMed:
PMID:11412303
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.97737577G>A , CM000664.2:g.97737577G>A | GRCh38 |
| NC_000002.11:g.98354040G>A , CM000664.1:g.98354040G>A | GRCh37 |
| NC_000002.10:g.97720472G>A | NCBI36 |
| NG_007727.1:g.29010G>A , LRG_126:g.29010G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698508.1:c.1394G>A | ENSP00000513759.1:p.Arg465His | |
| ENST00000698509.1:n.1534G>A | ||
| ENST00000264972.10:c.1394G>A MANE Select | ENSP00000264972.5:p.Arg465His | |
| ENST00000264972.9:c.1394G>A | ENSP00000264972.5:p.Arg465His | |
| ENST00000451498.2:c.473G>A | ENSP00000400475.2:p.Arg158His | |
| ENST00000463643.5:n.1255G>A | ||
| ENST00000487283.5:n.2446G>A | ||
| ENST00000495754.1:n.332G>A | ||
| NM_001079.3:c.1394G>A , LRG_126t1:c.1394G>A | NP_001070.2:p.Arg465His | |
| NM_207519.1:c.473G>A | NP_997402.1:p.Arg158His | |
| XM_005264015.3:c.1376G>A | XP_005264072.1:p.Arg459His | |
| XM_006712728.2:c.1394G>A | XP_006712791.1:p.Arg465His | |
| XM_011511783.1:c.1394G>A | XP_011510085.1:p.Arg465His | |
| XR_923018.1:n.1596G>A | ||
| XR_923019.1:n.1596G>A | ||
| XR_923020.1:n.1596G>A | ||
| XM_017004867.1:c.1763G>A | XP_016860356.1:p.Arg588His | |
| XM_017004868.1:c.1745G>A | XP_016860357.1:p.Arg582His | |
| XM_017004869.1:c.1763G>A | XP_016860358.1:p.Arg588His | |
| XM_017004870.1:c.1763G>A | XP_016860359.1:p.Arg588His | |
| XR_001738925.1:n.3002G>A | ||
| XR_001738926.1:n.3002G>A | ||
| XR_001738927.1:n.3002G>A | ||
| NM_001079.4:c.1394G>A MANE Select | NP_001070.2:p.Arg465His | |
| NM_001378594.1:c.1394G>A | NP_001365523.1:p.Arg465His | |
| NM_207519.2:c.473G>A | NP_997402.1:p.Arg158His |