Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94941688G>A , CM000672.2:g.94941688G>A | GRCh38 |
| NC_000010.10:g.96701445G>A , CM000672.1:g.96701445G>A | GRCh37 |
| NC_000010.9:g.96691435G>A | NCBI36 |
| NG_008385.1:g.8031G>A | |
| NG_008385.2:g.8531G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260682.8:c.169-170G>A MANE Select | ENSP00000260682.6:n.169-170G>A | |
| ENST00000643112.1:c.169-170G>A | ENSP00000496202.1:n.169-170G>A | |
| ENST00000645207.1:n.152G>A | ||
| ENST00000260682.6:c.169-170G>A | ENSP00000260682.6:n.169-170G>A | |
| ENST00000461906.1:n.194-170G>A | ||
| NM_000771.3:c.169-170G>A | NP_000762.2:n.169-170G>A | |
| NM_000771.4:c.169-170G>A MANE Select | NP_000762.2:n.169-170G>A |