Linked Data
ClinVar Variation Id:
92604
ClinVar RCV Id:
RCV000078345
dbSNP Id:
rs398123241
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.134498389G>A , CM000685.2:g.134498389G>A | GRCh38 |
| NC_000023.10:g.133632419G>A , CM000685.1:g.133632419G>A | GRCh37 |
| NC_000023.9:g.133460085G>A | NCBI36 |
| NG_012329.1:g.43245G>A | |
| NG_012329.2:g.43245G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000298556.8:c.486-1G>A MANE Select | ENSP00000298556.7:n.486-1G>A | |
| ENST00000298556.7:c.486-1G>A | ENSP00000298556.7:n.486-1G>A | |
| ENST00000462974.5:n.644-1G>A | ||
| ENST00000475720.1:n.444-1G>A | ||
| NM_000194.2:c.486-1G>A | NP_000185.1:n.486-1G>A | |
| XM_011531328.1:c.504-1G>A | XP_011529630.1:n.504-1G>A | |
| NM_000194.3:c.486-1G>A MANE Select | NP_000185.1:n.486-1G>A |