Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.57410664T>G , CM000678.2:g.57410664T>G | GRCh38 |
| NC_000016.9:g.57444576T>G , CM000678.1:g.57444576T>G | GRCh37 |
| NC_000016.8:g.56002077T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002987.3:c.-59-3210T>G MANE Select | NP_002978.1:n.-59-3210T>G |
| ENST00000219244.9:c.-59-3210T>G MANE Select | ENSP00000219244.4:n.-59-3210T>G |
| NM_002987.2:c.-59-3210T>G | NP_002978.1:n.-59-3210T>G |
| ENST00000219244.8:c.-59-3210T>G | ENSP00000219244.4:n.-59-3210T>G |
| XM_011523256.1:c.26-3210T>G | XP_011521558.1:n.26-3210T>G |
| XM_011523256.2:c.26-3210T>G | XP_011521558.1:n.26-3210T>G |
| XM_017023530.1:c.26-3207T>G | XP_016879019.1:n.26-3207T>G |