Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.13819432G>C , CM000665.2:g.13819432G>C | GRCh38 |
| NC_000003.11:g.13860929G>C , CM000665.1:g.13860929G>C | GRCh37 |
| NC_000003.10:g.13835930G>C | NCBI36 |
| NG_008088.1:g.65690C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004625.4:c.571-9C>G MANE Select | NP_004616.2:n.571-9C>G |
| ENST00000285018.5:c.571-9C>G MANE Select | ENSP00000285018.4:n.571-9C>G |
| NM_004625.3:c.571-9C>G | NP_004616.2:n.571-9C>G |
| ENST00000285018.4:c.571-9C>G | ENSP00000285018.4:n.571-9C>G |
| XM_011534090.1:c.370-9C>G | XP_011532392.1:n.370-9C>G |
| XM_011534091.1:c.370-9C>G | XP_011532393.1:n.370-9C>G |
| XM_011534091.2:c.370-9C>G | XP_011532393.1:n.370-9C>G |