Linked Data
ClinVar Variation Id:
56076
dbSNP Id:
rs386833557
gnomAD v4:
9-6553411-C-T
PubMed:
PMID:12402263
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6553411C>T , CM000671.2:g.6553411C>T | GRCh38 |
| NC_000009.11:g.6553411C>T , CM000671.1:g.6553411C>T | GRCh37 |
| NC_000009.10:g.6543411C>T | NCBI36 |
| NG_016397.1:g.97282G>A , LRG_643:g.97282G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.2414G>A MANE Select | ENSP00000370737.4:p.Trp805Ter | |
| ENST00000638233.1:n.849G>A | ||
| ENST00000638661.1:c.614G>A | ENSP00000491369.1:p.Trp205Ter | |
| ENST00000638694.1:n.601G>A | ||
| ENST00000639318.1:c.614G>A | ENSP00000491932.1:p.Trp205Ter | |
| ENST00000639364.1:n.2114G>A | ||
| ENST00000639443.1:n.1982G>A | ||
| ENST00000639639.1:c.116G>A | ENSP00000491312.1:p.Trp39Ter | |
| ENST00000639954.1:n.2122G>A | ||
| ENST00000640505.1:n.653G>A | ||
| ENST00000321612.6:c.2414G>A | ENSP00000370737.3:p.Trp805Ter | |
| NM_000170.2:c.2414G>A , LRG_643t1:c.2414G>A | NP_000161.2:p.Trp805Ter | |
| NM_000170.3:c.2414G>A MANE Select | NP_000161.2:p.Trp805Ter |