Linked Data
ClinVar Variation Id:
1060609
ClinVar RCV Id:
RCV001370065
dbSNP Id:
rs2151199849
gnomAD v4:
15-90811289-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90811289C>A , CM000677.2:g.90811289C>A | GRCh38 |
| NC_000015.9:g.91354519C>A , CM000677.1:g.91354519C>A | GRCh37 |
| NC_000015.8:g.89155523C>A | NCBI36 |
| NG_007272.1:g.98918C>A , LRG_20:g.98918C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355112.8:c.3959C>A MANE Select | ENSP00000347232.3:p.Pro1320His | |
| ENST00000560559.2:n.2532C>A | ||
| ENST00000648453.1:c.3959C>A | ENSP00000497646.1:p.Pro1320His | |
| ENST00000680772.1:c.3959C>A | ENSP00000506117.1:p.Pro1320His | |
| ENST00000681142.1:c.3959C>A | ENSP00000506682.1:p.Pro1320His | |
| ENST00000355112.7:c.3959C>A | ENSP00000347232.3:p.Pro1320His | |
| ENST00000558825.5:n.1306C>A | ||
| ENST00000559724.5:c.*2883C>A | ENSP00000453359.1:n.*2883C>A | |
| ENST00000560136.5:n.1985C>A | ||
| ENST00000560509.5:c.3566C>A | ENSP00000454158.1:p.Pro1189His | |
| ENST00000560821.1:n.379C>A | ||
| NM_000057.3:c.3959C>A | NP_000048.1:p.Pro1320His | |
| NM_001287246.1:c.3959C>A | NP_001274175.1:p.Pro1320His | |
| NM_001287247.1:c.3566C>A | NP_001274176.1:p.Pro1189His | |
| NM_001287248.1:c.2834C>A | NP_001274177.1:p.Pro945His | |
| XM_006720632.2:c.1997C>A | XP_006720695.1:p.Pro666His | |
| XM_011521881.1:c.2645C>A | XP_011520183.1:p.Pro882His | |
| XM_011521881.2:c.2645C>A | XP_011520183.1:p.Pro882His | |
| NM_000057.4:c.3959C>A MANE Select | NP_000048.1:p.Pro1320His | |
| NM_001287246.2:c.3959C>A | NP_001274175.1:p.Pro1320His | |
| NM_001287247.2:c.3566C>A | NP_001274176.1:p.Pro1189His | |
| NM_001287248.2:c.2834C>A | NP_001274177.1:p.Pro945His |