ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56042170G>A , CM000674.2:g.56042170G>A | GRCh38 |
| NC_000012.11:g.56435954G>A , CM000674.1:g.56435954G>A | GRCh37 |
| NC_000012.10:g.54722221G>A | NCBI36 |
| NG_023201.1:g.5269G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356464.10:c.3+1G>A | ENSP00000348849.5:n.3+1G>A | |
| ENST00000646449.2:c.3+1G>A MANE Select | ENSP00000496643.1:n.3+1G>A | |
| ENST00000356464.9:c.3+1G>A | ENSP00000348849.5:n.3+1G>A | |
| ENST00000548590.1:n.30+1G>A | ||
| ENST00000552361.1:c.3+1G>A | ENSP00000450339.1:n.3+1G>A | |
| NM_001029.3:c.3+1G>A | NP_001020.2:n.3+1G>A | |
| NM_001029.5:c.3+1G>A MANE Select | NP_001020.2:n.3+1G>A |