Linked Data
ClinVar Variation Id:
456638
ClinVar RCV Id:
RCV002231223
dbSNP Id:
rs893198212
gnomAD v4:
2-38071052-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38071052C>T , CM000664.2:g.38071052C>T | GRCh38 |
| NC_000002.11:g.38298195C>T , CM000664.1:g.38298195C>T | GRCh37 |
| NC_000002.10:g.38151699C>T | NCBI36 |
| NG_008386.2:g.10050G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000490576.2:c.1302G>A | ENSP00000478839.2:p.Trp434Ter | |
| ENST00000610745.5:c.1302G>A MANE Select | ENSP00000478561.1:p.Trp434Ter | |
| ENST00000492443.1:n.680G>A | ||
| ENST00000494864.1:c.189G>A | ENSP00000479876.1:p.Trp63Ter | |
| ENST00000610745.4:c.1302G>A | ENSP00000478561.1:p.Trp434Ter | |
| ENST00000614273.1:c.1302G>A | ENSP00000483678.1:p.Trp434Ter | |
| NM_000104.3:c.1302G>A | NP_000095.2:p.Trp434Ter | |
| NM_000104.4:c.1302G>A MANE Select | NP_000095.2:p.Trp434Ter |