Linked Data
ClinVar Variation Id:
376190
ClinVar RCV Id:
RCV000424878
dbSNP Id:
rs1057519817
CIViC:
CA16602645
PubMed:
PMID:23680147
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56088073C>A , CM000674.2:g.56088073C>A | GRCh38 |
| NC_000012.11:g.56481857C>A , CM000674.1:g.56481857C>A | GRCh37 |
| NC_000012.10:g.54768124C>A | NCBI36 |
| NG_011529.1:g.12966C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682431.1:n.944C>A | ||
| ENST00000683018.1:c.608C>A | ENSP00000506822.1:p.Pro203His | |
| ENST00000683059.1:c.608C>A | ENSP00000507402.1:p.Pro203His | |
| ENST00000683164.1:c.608C>A | ENSP00000508051.1:p.Pro203His | |
| ENST00000683653.1:n.739C>A | ||
| ENST00000684500.1:n.914C>A | ||
| ENST00000267101.8:c.785C>A MANE Select | ENSP00000267101.4:p.Pro262His | |
| ENST00000267101.7:c.785C>A | ENSP00000267101.3:p.Pro262His | |
| ENST00000415288.6:c.608C>A | ENSP00000408340.2:p.Pro203His | |
| ENST00000546748.1:n.250C>A | ||
| ENST00000550869.5:c.25-6408C>A | ENSP00000448671.1:n.25-6408C>A | |
| ENST00000551085.5:c.785C>A | ENSP00000448483.1:p.Pro262His | |
| ENST00000551242.5:c.785C>A | ENSP00000447510.1:p.Pro262His | |
| NM_001982.3:c.785C>A | NP_001973.2:p.Pro262His | |
| NM_001982.4:c.785C>A MANE Select | NP_001973.2:p.Pro262His |