Linked Data
ClinVar Variation Id:
25115
ClinVar RCV Id:
RCV000022041
dbSNP Id:
rs111033637
PubMed:
PMID:11919338
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34646731G>C , CM000671.2:g.34646731G>C | GRCh38 |
| NC_000009.11:g.34646728G>C , CM000671.1:g.34646728G>C | GRCh37 |
| NC_000009.10:g.34636728G>C | NCBI36 |
| NG_009029.1:g.5094G>C | |
| NG_009029.2:g.5143G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000691183.1:c.27G>C | ENSP00000509954.1:p.Gln9His | |
| ENST00000378842.8:c.27G>C MANE Select | ENSP00000368119.4:p.Gln9His | |
| ENST00000378842.7:c.27G>C | ENSP00000368119.3:p.Gln9His | |
| ENST00000450095.6:c.-176G>C | ENSP00000401956.2:n.-176G>C | |
| ENST00000465543.6:n.64G>C | ||
| ENST00000468099.2:n.99G>C | ||
| ENST00000472111.5:n.68G>C | ||
| ENST00000473506.6:c.27G>C | ENSP00000432839.2:p.Gln9His | |
| ENST00000473529.5:n.74G>C | ||
| ENST00000487381.5:n.53G>C | ||
| ENST00000489643.6:n.57G>C | ||
| ENST00000554085.5:c.27G>C | ENSP00000450419.1:p.Gln9His | |
| ENST00000554139.5:n.80G>C | ||
| ENST00000554550.5:c.27G>C | ENSP00000451435.1:p.Gln9His | |
| ENST00000554638.5:n.51G>C | ||
| ENST00000554897.5:c.27G>C | ENSP00000450942.1:p.Gln9His | |
| ENST00000554944.5:n.57G>C | ||
| ENST00000555020.5:n.57G>C | ||
| ENST00000555214.5:n.36G>C | ||
| ENST00000556278.1:c.27G>C | ENSP00000451792.1:p.Gln9His | |
| ENST00000557541.5:n.87G>C | ||
| ENST00000605275.1:n.263G>C | ||
| NM_000155.3:c.27G>C | NP_000146.2:p.Gln9His | |
| NM_001258332.1:c.-176G>C | NP_001245261.1:n.-176G>C | |
| NM_000155.4:c.27G>C MANE Select | NP_000146.2:p.Gln9His | |
| NM_001258332.2:c.-176G>C | NP_001245261.1:n.-176G>C |