Linked Data
ClinVar Variation Id:
472850
dbSNP Id:
rs780428043
ExAC:
14:105180632 C / T
gnomAD v2:
14-105180632-C-T
gnomAD v3:
14-104714295-C-T
gnomAD v4:
14-104714295-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.104714295C>T , CM000676.2:g.104714295C>T | GRCh38 |
| NC_000014.8:g.105180632C>T , CM000676.1:g.105180632C>T | GRCh37 |
| NC_000014.7:g.104251677C>T | NCBI36 |
| NG_027684.1:g.29690C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392634.9:c.3133C>T MANE Select | ENSP00000376410.4:p.Arg1045Trp | |
| ENST00000617571.5:c.3129C>T | ENSP00000483829.2:p.Pro1043= | |
| ENST00000674520.1:c.3128C>T | ENSP00000502593.1:n.3128C>T | |
| ENST00000674631.1:c.1171C>T | ENSP00000502830.1:p.Arg391Trp | |
| ENST00000674662.1:c.3137C>T | ENSP00000501895.1:n.3137C>T | |
| ENST00000674757.1:c.3138C>T | ENSP00000502202.1:p.Pro1046= | |
| ENST00000674822.1:c.3017C>T | ENSP00000501552.1:n.3017C>T | |
| ENST00000674846.1:c.3128C>T | ENSP00000502431.1:n.3128C>T | |
| ENST00000674857.1:c.3122C>T | ENSP00000501687.1:n.3122C>T | |
| ENST00000674960.1:c.2991C>T | ENSP00000501841.1:n.2991C>T | |
| ENST00000674991.1:c.2383C>T | ENSP00000502004.1:p.Arg795Trp | |
| ENST00000675207.1:c.3229C>T | ENSP00000502644.1:p.Arg1077Trp | |
| ENST00000675329.1:c.3109C>T | ENSP00000502287.1:p.Arg1037Trp | |
| ENST00000675481.1:c.3133C>T | ENSP00000502723.1:p.Arg1045Trp | |
| ENST00000675583.1:c.3062C>T | ENSP00000501740.1:n.3062C>T | |
| ENST00000675603.1:n.373C>T | ||
| ENST00000675638.1:c.3052C>T | ENSP00000501647.1:p.Arg1018Trp | |
| ENST00000675724.1:c.3071C>T | ENSP00000502576.1:n.3071C>T | |
| ENST00000675771.1:c.2396C>T | ENSP00000502104.1:n.2396C>T | |
| ENST00000675797.1:c.2538C>T | ENSP00000502023.1:n.2538C>T | |
| ENST00000675809.1:c.3188C>T | ENSP00000502587.1:n.3188C>T | |
| ENST00000675930.1:c.3133C>T | ENSP00000502456.1:p.Arg1045Trp | |
| ENST00000675980.1:c.3151C>T | ENSP00000502520.1:p.Arg1051Trp | |
| ENST00000676016.1:c.3032C>T | ENSP00000502412.1:n.3032C>T | |
| ENST00000676366.1:c.3133C>T | ENSP00000501605.1:p.Arg1045Trp | |
| ENST00000252527.8:c.1537C>T | ENSP00000252527.8:p.Arg513Trp | |
| ENST00000330634.11:c.3133C>T | ENSP00000376406.3:p.Arg1045Trp | |
| ENST00000392634.8:c.3133C>T | ENSP00000376410.4:p.Arg1045Trp | |
| ENST00000617571.4:c.-1001C>T | ENSP00000483829.1:n.-1001C>T | |
| NM_001031714.3:c.3133C>T | NP_001026884.3:p.Arg1045Trp | |
| NM_022489.3:c.3133C>T | NP_071934.3:p.Arg1045Trp | |
| XM_005268004.3:c.3229C>T | XP_005268061.1:p.Arg1077Trp | |
| XM_005268005.3:c.3229C>T | XP_005268062.1:p.Arg1077Trp | |
| XR_943507.1:n.3358C>T | ||
| XM_005268004.4:c.3229C>T | XP_005268061.1:p.Arg1077Trp | |
| XM_005268005.4:c.3229C>T | XP_005268062.1:p.Arg1077Trp | |
| XM_017021595.1:c.3229C>T | XP_016877084.1:p.Arg1077Trp | |
| NM_001031714.4:c.3133C>T | NP_001026884.3:p.Arg1045Trp | |
| NM_022489.4:c.3133C>T MANE Select | NP_071934.3:p.Arg1045Trp |