HGVS | Genome Assembly |
---|---|
NC_000022.11:g.20888392C>T , CM000684.2:g.20888392C>T | GRCh38 |
NC_000022.10:g.21242680C>T , CM000684.1:g.21242680C>T | GRCh37 |
NC_000022.9:g.19572680C>T | NCBI36 |
NG_012152.1:g.34389C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000215730.12:c.*556C>T MANE Select | ENSP00000215730.6:n.*556C>T | |
ENST00000215730.11:c.*556C>T | ENSP00000215730.6:n.*556C>T | |
NM_004782.3:c.*556C>T | NP_004773.1:n.*556C>T | |
NM_004782.4:c.*556C>T MANE Select | NP_004773.1:n.*556C>T |