Linked Data
ClinVar Variation Id:
25336
ClinVar RCV Id:
RCV000022282
dbSNP Id:
rs111033827
gnomAD v4:
9-34650449-A-C
PubMed:
PMID:15841485
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34650449A>C , CM000671.2:g.34650449A>C | GRCh38 |
| NC_000009.11:g.34650446A>C , CM000671.1:g.34650446A>C | GRCh37 |
| NC_000009.10:g.34640446A>C | NCBI36 |
| NG_009029.1:g.8812A>C | |
| NG_028966.1:g.3265A>C | |
| NG_009029.2:g.8861A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000691183.1:c.*728A>C | ENSP00000509954.1:n.*728A>C | |
| ENST00000378842.8:c.1140A>C MANE Select | ENSP00000368119.4:p.Ter380Cys | |
| ENST00000378842.7:c.1140A>C | ENSP00000368119.3:p.Ter380Cys | |
| ENST00000450095.6:c.813A>C | ENSP00000401956.2:p.Ter271Cys | |
| ENST00000488412.2:n.724A>C | ||
| ENST00000554550.5:c.*760A>C | ENSP00000451435.1:n.*760A>C | |
| ENST00000554638.5:n.1612A>C | ||
| ENST00000555754.1:n.588A>C | ||
| ENST00000556278.1:c.432+1993A>C | ENSP00000451792.1:n.432+1993A>C | |
| ENST00000557706.5:n.1715A>C | ||
| NM_000155.3:c.1140A>C | NP_000146.2:p.Ter380Cys | |
| NM_001258332.1:c.813A>C | NP_001245261.1:p.Ter271Cys | |
| NM_000155.4:c.1140A>C MANE Select | NP_000146.2:p.Ter380Cys | |
| NM_001258332.2:c.813A>C | NP_001245261.1:p.Ter271Cys |