Linked Data
ClinVar Variation Id:
372233
ClinVar RCV Id:
RCV000412501
dbSNP Id:
rs1057519083
PubMed:
PMID:25712129
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.126304283T>C , CM000673.2:g.126304283T>C | GRCh38 |
| NC_000011.9:g.126174178T>C , CM000673.1:g.126174178T>C | GRCh37 |
| NC_000011.8:g.125679388T>C | NCBI36 |
| NG_053153.1:g.5983T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263579.5:c.201+2T>C MANE Select | ENSP00000263579.4:n.201+2T>C | |
| ENST00000263579.4:c.201+2T>C | ENSP00000263579.4:n.201+2T>C | |
| NM_014026.4:c.201+2T>C | NP_054745.1:n.201+2T>C | |
| XM_011542778.1:c.203T>C | XP_011541080.1:p.Val68Ala | |
| NM_001350236.1:c.203T>C | NP_001337165.1:p.Val68Ala | |
| NM_014026.5:c.201+2T>C | NP_054745.1:n.201+2T>C | |
| NM_014026.6:c.201+2T>C MANE Select | NP_054745.1:n.201+2T>C | |
| NM_001350236.2:c.203T>C | NP_001337165.1:p.Val68Ala |