HGVS | Genome Assembly |
---|---|
NC_000022.11:g.20888184T>A , CM000684.2:g.20888184T>A | GRCh38 |
NC_000022.10:g.21242472T>A , CM000684.1:g.21242472T>A | GRCh37 |
NC_000022.9:g.19572472T>A | NCBI36 |
NG_012152.1:g.34181T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000215730.12:c.*348T>A MANE Select | ENSP00000215730.6:n.*348T>A | |
ENST00000215730.11:c.*348T>A | ENSP00000215730.6:n.*348T>A | |
NM_004782.3:c.*348T>A | NP_004773.1:n.*348T>A | |
NM_004782.4:c.*348T>A MANE Select | NP_004773.1:n.*348T>A |