Linked Data
ClinVar Variation Id:
66084
dbSNP Id:
rs144292455
ExAC:
4:104577415 C / T
gnomAD v2:
4-104577415-C-T
gnomAD v3:
4-103656258-C-T
gnomAD v4:
4-103656258-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.103656258C>T , CM000666.2:g.103656258C>T | GRCh38 |
| NC_000004.11:g.104577415C>T , CM000666.1:g.104577415C>T | GRCh37 |
| NC_000004.10:g.104796864C>T | NCBI36 |
| NG_023344.1:g.68559G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000304883.3:c.824G>A MANE Select | ENSP00000303325.2:p.Trp275Ter | |
| ENST00000304883.2:c.824G>A | ENSP00000303325.2:p.Trp275Ter | |
| NM_001059.2:c.824G>A | NP_001050.1:p.Trp275Ter | |
| NM_001059.3:c.824G>A MANE Select | NP_001050.1:p.Trp275Ter |