Linked Data
ClinVar Variation Id:
1465705
ClinVar RCV Id:
RCV001990345
dbSNP Id:
rs1275551543
gnomAD v3:
11-72195278-C-A
gnomAD v4:
11-72195278-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72195278C>A , CM000673.2:g.72195278C>A | GRCh38 |
| NC_000011.9:g.71906322C>A , CM000673.1:g.71906322C>A | GRCh37 |
| NC_000011.8:g.71583970C>A | NCBI36 |
| NG_015863.1:g.10721C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312293.9:c.176C>A | ENSP00000308137.4:p.Pro59His | |
| ENST00000393676.5:c.176C>A MANE Select | ENSP00000377281.3:p.Pro59His | |
| ENST00000675784.1:c.176C>A | ENSP00000502440.1:p.Pro59His | |
| ENST00000312293.8:c.176C>A | ENSP00000308137.4:p.Pro59His | |
| ENST00000393676.3:c.176C>A | ENSP00000377281.3:p.Pro59His | |
| ENST00000393679.5:c.176C>A | ENSP00000377284.1:p.Pro59His | |
| ENST00000393681.6:c.176C>A | ENSP00000377286.2:p.Pro59His | |
| NM_000802.3:c.176C>A | NP_000793.1:p.Pro59His | |
| NM_016724.2:c.176C>A | NP_057936.1:p.Pro59His | |
| NM_016725.2:c.176C>A | NP_057937.1:p.Pro59His | |
| NM_016729.2:c.176C>A | NP_057941.1:p.Pro59His | |
| NM_016729.3:c.176C>A MANE Select | NP_057941.1:p.Pro59His | |
| NM_016724.3:c.176C>A | NP_057936.1:p.Pro59His | |
| NM_016725.3:c.176C>A | NP_057937.1:p.Pro59His |