Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94942188T>A , CM000672.2:g.94942188T>A | GRCh38 |
| NC_000010.10:g.96701945T>A , CM000672.1:g.96701945T>A | GRCh37 |
| NC_000010.9:g.96691935T>A | NCBI36 |
| NG_008385.1:g.8531T>A | |
| NG_008385.2:g.9031T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260682.8:c.332-4T>A MANE Select | ENSP00000260682.6:n.332-4T>A | |
| ENST00000643112.1:c.332-4T>A | ENSP00000496202.1:n.332-4T>A | |
| ENST00000645207.1:n.485-4T>A | ||
| ENST00000260682.6:c.332-4T>A | ENSP00000260682.6:n.332-4T>A | |
| ENST00000461906.1:n.357-4T>A | ||
| ENST00000473496.1:n.103-4T>A | ||
| NM_000771.3:c.332-4T>A | NP_000762.2:n.332-4T>A | |
| NM_000771.4:c.332-4T>A MANE Select | NP_000762.2:n.332-4T>A |