HGVS | Genome Assembly |
---|---|
NC_000012.12:g.120739065C>T , CM000674.2:g.120739065C>T | GRCh38 |
NC_000012.11:g.121176868C>T , CM000674.1:g.121176868C>T | GRCh37 |
NC_000012.10:g.119661251C>T | NCBI36 |
NG_007991.1:g.18298C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000242592.9:c.1030-75C>T MANE Select | ENSP00000242592.4:n.1030-75C>T | |
ENST00000242592.8:c.1030-75C>T | ENSP00000242592.4:n.1030-75C>T | |
ENST00000411593.2:c.1018-75C>T | ENSP00000401045.2:n.1018-75C>T | |
NM_000017.3:c.1030-75C>T | NP_000008.1:n.1030-75C>T | |
NM_001302554.1:c.1018-75C>T | NP_001289483.1:n.1018-75C>T | |
NM_000017.4:c.1030-75C>T MANE Select | NP_000008.1:n.1030-75C>T | |
NM_001302554.2:c.1018-75C>T | NP_001289483.1:n.1018-75C>T |