Linked Data
ClinVar Variation Id:
5213
dbSNP Id:
rs104893998
ExAC:
6:41129159 C / T
gnomAD v2:
6-41129159-C-T
gnomAD v3:
6-41161421-C-T
gnomAD v4:
6-41161421-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.41161421C>T , CM000668.2:g.41161421C>T | GRCh38 |
| NC_000006.11:g.41129159C>T , CM000668.1:g.41129159C>T | GRCh37 |
| NC_000006.10:g.41237137C>T | NCBI36 |
| NG_011561.1:g.6764G>A , LRG_631:g.6764G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000373113.8:c.233G>A MANE Select | ENSP00000362205.3:p.Trp78Ter | |
| ENST00000338469.3:c.233G>A | ENSP00000342651.4:p.Trp78Ter | |
| ENST00000373113.7:c.233G>A | ENSP00000362205.3:p.Trp78Ter | |
| ENST00000373122.8:c.233G>A | ENSP00000362214.4:p.Trp78Ter | |
| NM_001271821.1:c.233G>A | NP_001258750.1:p.Trp78Ter | |
| NM_018965.3:c.233G>A , LRG_631t1:c.233G>A | NP_061838.1:p.Trp78Ter | |
| XM_006715116.2:c.131-1539G>A | XP_006715179.1:n.131-1539G>A | |
| XR_926795.1:n.222+5858C>T | ||
| XR_926796.1:n.214+5858C>T | ||
| XR_926797.1:n.188+5858C>T | ||
| XR_926795.2:n.517+5858C>T | ||
| XR_926797.2:n.232+5858C>T | ||
| NM_001271821.2:c.233G>A | NP_001258750.1:p.Trp78Ter | |
| NM_018965.4:c.233G>A MANE Select | NP_061838.1:p.Trp78Ter |