Linked Data
ClinVar Variation Id:
30008
dbSNP Id:
rs281875238
gnomAD v4:
9-2116002-C-T
PubMed:
PMID:22366787
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.2116002C>T , CM000671.2:g.2116002C>T | GRCh38 |
| NC_000009.11:g.2116002C>T , CM000671.1:g.2116002C>T | GRCh37 |
| NC_000009.10:g.2106002C>T | NCBI36 |
| NG_032162.1:g.105661C>T | |
| NG_032162.2:g.140713C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000704350.1:c.3277C>T | ENSP00000515861.1:p.Arg1093Trp | |
| ENST00000704352.1:c.1174-45684C>T | ENSP00000515863.1:n.1174-45684C>T | |
| ENST00000704353.1:c.1174-45684C>T | ENSP00000515864.1:n.1174-45684C>T | |
| ENST00000704354.1:c.3621C>T | ||
| ENST00000704355.1:c.2001C>T | ||
| ENST00000349721.8:c.3637C>T MANE Select | ENSP00000265773.5:p.Arg1213Trp | |
| ENST00000357248.8:c.3637C>T | ENSP00000349788.2:p.Arg1213Trp | |
| ENST00000635739.1:n.2305C>T | ||
| ENST00000636157.1:n.1244C>T | ||
| ENST00000638139.1:n.671C>T | ||
| ENST00000349721.7:c.3637C>T | ENSP00000265773.5:p.Arg1213Trp | |
| ENST00000357248.7:c.3637C>T | ENSP00000349788.2:p.Arg1213Trp | |
| ENST00000382194.6:c.3637C>T | ENSP00000371629.1:p.Arg1213Trp | |
| ENST00000382203.5:c.3637C>T | ENSP00000371638.1:p.Arg1213Trp | |
| ENST00000450198.6:c.3463C>T | ENSP00000392081.2:p.Arg1155Trp | |
| ENST00000634760.1:c.3637C>T | ENSP00000489256.1:p.Arg1213Trp | |
| ENST00000634772.1:c.62-3456C>T | ||
| ENST00000634925.1:n.1128C>T | ||
| NM_001289396.1:c.3637C>T | NP_001276325.1:p.Arg1213Trp | |
| NM_001289397.1:c.3463C>T | NP_001276326.1:p.Arg1155Trp | |
| NM_003070.4:c.3637C>T | NP_003061.3:p.Arg1213Trp | |
| NM_139045.3:c.3637C>T | NP_620614.2:p.Arg1213Trp | |
| NM_003070.5:c.3637C>T MANE Select | NP_003061.3:p.Arg1213Trp | |
| NM_001289397.2:c.3463C>T | NP_001276326.1:p.Arg1155Trp | |
| NM_139045.4:c.3637C>T | NP_620614.2:p.Arg1213Trp |