Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.57413408C>T , CM000678.2:g.57413408C>T | GRCh38 |
| NC_000016.9:g.57447320C>T , CM000678.1:g.57447320C>T | GRCh37 |
| NC_000016.8:g.56004821C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219244.9:c.-59-466C>T MANE Select | ENSP00000219244.4:n.-59-466C>T | |
| ENST00000219244.8:c.-59-466C>T | ENSP00000219244.4:n.-59-466C>T | |
| NM_002987.2:c.-59-466C>T | NP_002978.1:n.-59-466C>T | |
| XM_011523256.1:c.26-466C>T | XP_011521558.1:n.26-466C>T | |
| XM_011523256.2:c.26-466C>T | XP_011521558.1:n.26-466C>T | |
| XM_017023530.1:c.26-463C>T | XP_016879019.1:n.26-463C>T | |
| NM_002987.3:c.-59-466C>T MANE Select | NP_002978.1:n.-59-466C>T |