Linked Data
ClinVar Variation Id:
522165
ClinVar RCV Id:
RCV000622351
dbSNP Id:
rs1156887945
gnomAD v2:
10-89717613-C-A
COSMIC:
COSM17561
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87957856C>A , CM000672.2:g.87957856C>A | GRCh38 |
| NC_000010.10:g.89717613C>A , CM000672.1:g.89717613C>A | GRCh37 |
| NC_000010.9:g.89707593C>A | NCBI36 |
| NG_007466.2:g.99418C>A , LRG_311:g.99418C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.638C>A | ENSP00000514759.2:p.Pro213His | |
| ENST00000710265.1:c.638C>A | ENSP00000518161.1:p.Pro213His | |
| ENST00000472832.3:c.638C>A | ENSP00000483066.2:p.Pro213His | |
| ENST00000688158.2:n.1373C>A | ||
| ENST00000688922.2:c.*468C>A | ENSP00000508742.2:n.*468C>A | |
| ENST00000700021.1:c.593C>A | ENSP00000514757.1:p.Pro198His | |
| ENST00000700022.1:c.496C>A | ENSP00000514758.1:p.Leu166Ile | |
| ENST00000700023.1:n.1796C>A | ||
| ENST00000700024.1:n.2030C>A | ||
| ENST00000700025.1:n.1407C>A | ||
| ENST00000700026.1:n.275C>A | ||
| ENST00000700029.1:c.472C>A | ||
| ENST00000706954.1:c.638C>A | ENSP00000516674.1:p.Pro213His | |
| ENST00000706955.1:c.*673C>A | ENSP00000516675.1:n.*673C>A | |
| ENST00000686459.1:c.*224C>A | ENSP00000508909.1:n.*224C>A | |
| ENST00000688158.1:c.*749C>A | ENSP00000509254.1:n.*749C>A | |
| ENST00000688308.1:c.638C>A | ENSP00000508752.1:p.Pro213His | |
| ENST00000688922.1:c.559C>A | ||
| ENST00000693560.1:c.1157C>A | ENSP00000509861.1:p.Pro386His | |
| ENST00000371953.8:c.638C>A MANE Select | ENSP00000361021.3:p.Pro213His | |
| ENST00000371953.7:c.638C>A | ENSP00000361021.3:p.Pro213His | |
| ENST00000472832.2:c.65C>A | ENSP00000483066.1:p.Pro22His | |
| NM_000314.5:c.638C>A | NP_000305.3:p.Pro213His | |
| NM_000314.6:c.638C>A | NP_000305.3:p.Pro213His | |
| NM_001304717.2:c.1157C>A | NP_001291646.2:p.Pro386His | |
| NM_001304718.1:c.47C>A | NP_001291647.1:p.Pro16His | |
| XM_006717926.2:c.593C>A | XP_006717989.1:p.Pro198His | |
| XM_011539981.1:c.638C>A | XP_011538283.1:p.Pro213His | |
| XM_011539982.1:c.542C>A | XP_011538284.1:p.Pro181His | |
| XR_945791.1:n.1208C>A | ||
| NM_000314.7:c.638C>A | NP_000305.3:p.Pro213His | |
| NM_001304717.5:c.1157C>A | NP_001291646.4:p.Pro386His | |
| NM_001304718.2:c.47C>A | NP_001291647.1:p.Pro16His | |
| NM_000314.8:c.638C>A MANE Select | NP_000305.3:p.Pro213His |