Linked Data
dbSNP Id:
rs145659444
ExAC:
1:149902342 C / T
gnomAD v2:
1-149902342-C-T
gnomAD v3:
1-149930450-C-T
gnomAD v4:
1-149930450-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.149930450C>T , CM000663.2:g.149930450C>T | GRCh38 |
| NC_000001.10:g.149902342C>T , CM000663.1:g.149902342C>T | GRCh37 |
| NC_000001.9:g.148168966C>T | NCBI36 |
| NG_032777.1:g.2803G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000439741.4:c.1562G>A MANE Select | ENSP00000391668.2:p.Arg521His | |
| ENST00000369140.7:c.1346G>A | ENSP00000358136.3:p.Arg449His | |
| ENST00000439741.2:c.1562G>A | ENSP00000391668.2:p.Arg521His | |
| ENST00000466496.5:n.882G>A | ||
| ENST00000482025.5:n.1788G>A | ||
| ENST00000482343.5:n.1386G>A | ||
| ENST00000490310.1:n.694G>A | ||
| ENST00000492824.5:n.1982G>A | ||
| ENST00000495054.1:n.605G>A | ||
| NM_001145862.1:c.1562G>A | NP_001139334.1:p.Arg521His | |
| NM_181873.3:c.1346G>A | NP_870988.2:p.Arg449His | |
| XM_006711135.1:c.1454G>A | XP_006711198.1:p.Arg485His | |
| XM_006711136.2:c.1346G>A | XP_006711199.1:p.Arg449His | |
| XM_006711137.1:c.1346G>A | XP_006711200.1:p.Arg449His | |
| XM_011509098.1:c.1478G>A | XP_011507400.1:p.Arg493His | |
| XM_011509099.1:c.*520G>A | XP_011507401.1:n.*520G>A | |
| XR_426759.2:n.1753G>A | ||
| XR_426760.2:n.1659G>A | ||
| XM_011509099.3:c.*520G>A | XP_011507401.1:n.*520G>A | |
| XM_024452577.1:c.1478G>A | XP_024308345.1:p.Arg493His | |
| XM_024452578.1:c.1454G>A | XP_024308346.1:p.Arg485His | |
| XR_002959043.1:n.1775G>A | ||
| XR_002959062.1:n.1891G>A | ||
| XR_002959066.1:n.1593G>A | ||
| XR_002959067.1:n.3112G>A | ||
| XR_426760.4:n.1681G>A | ||
| NM_001145862.2:c.1562G>A MANE Select | NP_001139334.1:p.Arg521His |