HGVS | Genome Assembly |
---|---|
NC_000022.11:g.20888348C>T , CM000684.2:g.20888348C>T | GRCh38 |
NC_000022.10:g.21242636C>T , CM000684.1:g.21242636C>T | GRCh37 |
NC_000022.9:g.19572636C>T | NCBI36 |
NG_012152.1:g.34345C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000215730.12:c.*512C>T MANE Select | ENSP00000215730.6:n.*512C>T | |
ENST00000215730.11:c.*512C>T | ENSP00000215730.6:n.*512C>T | |
NM_004782.3:c.*512C>T | NP_004773.1:n.*512C>T | |
NM_004782.4:c.*512C>T MANE Select | NP_004773.1:n.*512C>T |