Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.57413502T>G , CM000678.2:g.57413502T>G | GRCh38 |
| NC_000016.9:g.57447414T>G , CM000678.1:g.57447414T>G | GRCh37 |
| NC_000016.8:g.56004915T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219244.9:c.-59-372T>G MANE Select | ENSP00000219244.4:n.-59-372T>G | |
| ENST00000219244.8:c.-59-372T>G | ENSP00000219244.4:n.-59-372T>G | |
| NM_002987.2:c.-59-372T>G | NP_002978.1:n.-59-372T>G | |
| XM_011523256.1:c.26-372T>G | XP_011521558.1:n.26-372T>G | |
| XM_011523256.2:c.26-372T>G | XP_011521558.1:n.26-372T>G | |
| XM_017023530.1:c.26-369T>G | XP_016879019.1:n.26-369T>G | |
| NM_002987.3:c.-59-372T>G MANE Select | NP_002978.1:n.-59-372T>G |