Linked Data
dbSNP Id:
rs758367799
ExAC:
17:29283445 C / T
gnomAD v2:
17-29283445-C-T
gnomAD v3:
17-30956427-C-T
gnomAD v4:
17-30956427-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.30956427C>T , CM000679.2:g.30956427C>T | GRCh38 |
| NC_000017.10:g.29283445C>T , CM000679.1:g.29283445C>T | GRCh37 |
| NC_000017.9:g.26307571C>T | NCBI36 |
| NG_051975.1:g.39692C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330889.8:c.1069C>T MANE Select | ENSP00000329468.3:p.Arg357Trp | |
| ENST00000330889.7:c.1069C>T | ENSP00000329468.3:p.Arg357Trp | |
| ENST00000470962.1:n.489C>T | ||
| ENST00000480980.1:n.503C>T | ||
| ENST00000580525.5:c.1087C>T | ENSP00000464121.1:p.Arg363Trp | |
| ENST00000581285.5:c.985C>T | ENSP00000464155.1:p.Arg329Trp | |
| ENST00000584828.5:c.402+36C>T | ||
| ENST00000585130.5:c.*668C>T | ENSP00000464120.1:n.*668C>T | |
| NM_018404.2:c.1069C>T | NP_060874.1:p.Arg357Trp | |
| XM_005258008.2:c.1087C>T | XP_005258065.1:p.Arg363Trp | |
| XM_005258011.2:c.1024C>T | XP_005258068.1:p.Arg342Trp | |
| XM_006721973.2:c.1051+36C>T | XP_006722036.1:n.1051+36C>T | |
| XM_011524993.1:c.1084C>T | XP_011523295.1:p.Arg362Trp | |
| XM_011524994.1:c.1066C>T | XP_011523296.1:p.Arg356Trp | |
| NM_001346712.1:c.1087C>T | NP_001333641.1:p.Arg363Trp | |
| NM_001346714.1:c.1066C>T | NP_001333643.1:p.Arg356Trp | |
| NM_001346716.1:c.1033+36C>T | NP_001333645.1:n.1033+36C>T | |
| NR_144488.1:n.1268C>T | ||
| XM_024450831.1:c.1069C>T | XP_024306599.1:p.Arg357Trp | |
| XM_024450832.1:c.1084C>T | XP_024306600.1:p.Arg362Trp | |
| XM_024450833.1:c.1024C>T | XP_024306601.1:p.Arg342Trp | |
| XM_024450834.1:c.1051+36C>T | XP_024306602.1:n.1051+36C>T | |
| XM_024450835.1:c.703C>T | XP_024306603.1:p.Arg235Trp | |
| NM_018404.3:c.1069C>T MANE Select | NP_060874.1:p.Arg357Trp | |
| NM_001346712.2:c.1087C>T | NP_001333641.1:p.Arg363Trp | |
| NM_001346714.2:c.1066C>T | NP_001333643.1:p.Arg356Trp | |
| NM_001346716.2:c.1033+36C>T | NP_001333645.1:n.1033+36C>T | |
| NR_144488.2:n.1059C>T |