Linked Data
ClinVar Variation Id:
100421
dbSNP Id:
rs267607352
gnomAD v4:
12-6016592-C-A
ERepo:
CA228706/MONDO:0015630/081
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6016592C>A , CM000674.2:g.6016592C>A | GRCh38 |
| NC_000012.11:g.6125758C>A , CM000674.1:g.6125758C>A | GRCh37 |
| NC_000012.10:g.5996019C>A | NCBI36 |
| NG_009072.1:g.113079G>T | |
| NG_009072.2:g.113079G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.5235G>T MANE Select | ENSP00000261405.5:p.Trp1745Cys | |
| ENST00000261405.9:c.5235G>T | ENSP00000261405.5:p.Trp1745Cys | |
| ENST00000538635.5:n.421-22658G>T | ||
| NM_000552.3:c.5235G>T | NP_000543.2:p.Trp1745Cys | |
| NM_000552.4:c.5235G>T | NP_000543.2:p.Trp1745Cys | |
| NM_000552.5:c.5235G>T MANE Select | NP_000543.3:p.Trp1745Cys |