Linked Data
ClinVar Variation Id:
13012
ClinVar RCV Id:
RCV000013886
dbSNP Id:
rs570621429
ExAC:
13:114434294 C / A
gnomAD v2:
13-114434294-C-A
gnomAD v4:
13-113731321-C-A
PubMed:
PMID:17070587
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113731321C>A , CM000675.2:g.113731321C>A | GRCh38 |
| NC_000013.10:g.114434294C>A , CM000675.1:g.114434294C>A | GRCh37 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335678.7:c.1172C>A MANE Select | ENSP00000334876.5:p.Pro391His | |
| ENST00000335678.6:c.1172C>A | ENSP00000334876.5:p.Pro391His | |
| ENST00000545304.1:n.155C>A | ||
| NM_002929.2:c.1172C>A | NP_002920.1:p.Pro391His | |
| XM_017020684.1:c.467C>A | XP_016876173.1:p.Pro156His | |
| NM_002929.3:c.1172C>A MANE Select | NP_002920.1:p.Pro391His |