dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.71472691T>A , CM000673.2:g.71472691T>A | GRCh38 |
| NC_000011.9:g.71183737T>A , CM000673.1:g.71183737T>A | GRCh37 |
| NC_000011.8:g.70861385T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319023.7:c.459+191T>A MANE Select | ENSP00000326424.2:n.459+191T>A | |
| ENST00000319023.6:c.459+191T>A | ENSP00000326424.2:n.459+191T>A | |
| ENST00000525200.5:c.359+191T>A | ||
| ENST00000528509.5:c.459+191T>A | ENSP00000433472.1:n.459+191T>A | |
| ENST00000529120.5:c.*204+191T>A | ENSP00000437220.1:n.*204+191T>A | |
| NM_018161.4:c.459+191T>A | NP_060631.2:n.459+191T>A | |
| NM_018161.5:c.459+191T>A MANE Select | NP_060631.2:n.459+191T>A |