Linked Data
ClinVar Variation Id:
188966
ClinVar RCV Id:
RCV000169341
dbSNP Id:
rs764920787
ExAC:
17:41053082 G / A
gnomAD v2:
17-41053082-G-A
gnomAD v3:
17-42901065-G-A
gnomAD v4:
17-42901065-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42901065G>A , CM000679.2:g.42901065G>A | GRCh38 |
| NC_000017.10:g.41053082G>A , CM000679.1:g.41053082G>A | GRCh37 |
| NC_000017.9:g.38306608G>A | NCBI36 |
| NG_011808.1:g.5268G>A , LRG_147:g.5268G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000253801.7:c.189G>A MANE Select | ENSP00000253801.1:p.Trp63Ter | |
| ENST00000253801.6:c.189G>A | ENSP00000253801.1:p.Trp63Ter | |
| ENST00000585489.1:c.189G>A | ENSP00000466202.1:p.Trp63Ter | |
| ENST00000588481.1:n.254G>A | ||
| ENST00000592383.5:c.189G>A | ENSP00000465958.1:p.Trp63Ter | |
| NM_000151.3:c.189G>A | NP_000142.2:p.Trp63Ter | |
| NM_001270397.1:c.189G>A | NP_001257326.1:p.Trp63Ter | |
| NM_000151.4:c.189G>A MANE Select | NP_000142.2:p.Trp63Ter | |
| NM_001270397.2:c.189G>A | NP_001257326.1:p.Trp63Ter |