Linked Data
dbSNP Id:
rs1264205538
gnomAD v2:
11-8111616-C-T
gnomAD v3:
11-8090069-C-T
gnomAD v4:
11-8090069-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.8090069C>T , CM000673.2:g.8090069C>T | GRCh38 |
| NC_000011.9:g.8111616C>T , CM000673.1:g.8111616C>T | GRCh37 |
| NC_000011.8:g.8068192C>T | NCBI36 |
| NG_029912.1:g.56437C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299506.3:c.91C>T MANE Select | ENSP00000299506.3:p.Arg31Trp | |
| ENST00000299506.2:c.91C>T | ENSP00000299506.2:p.Arg31Trp | |
| ENST00000305253.8:c.256C>T | ENSP00000305426.4:p.Arg86Trp | |
| ENST00000534099.5:c.109C>T | ENSP00000434400.1:p.Arg37Trp | |
| NM_003320.4:c.256C>T | NP_003311.2:p.Arg86Trp | |
| NM_177972.2:c.91C>T | NP_813977.1:p.Arg31Trp | |
| XM_005253109.2:c.217C>T | XP_005253166.1:p.Arg73Trp | |
| XM_011520344.1:c.127C>T | XP_011518646.1:p.Arg43Trp | |
| XM_005253109.3:c.217C>T | XP_005253166.1:p.Arg73Trp | |
| XM_011520344.2:c.127C>T | XP_011518646.1:p.Arg43Trp | |
| NM_177972.3:c.91C>T MANE Select | NP_813977.1:p.Arg31Trp | |
| NM_003320.5:c.256C>T | NP_003311.2:p.Arg86Trp |