HGVS | Genome Assembly |
---|---|
NC_000002.12:g.96143275G>A , CM000664.2:g.96143275G>A | GRCh38 |
NC_000002.11:g.96809014G>A , CM000664.1:g.96809014G>A | GRCh37 |
NC_000002.10:g.96172741G>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000288943.5:c.*548C>T MANE Select | ENSP00000288943.4:n.*548C>T | |
ENST00000288943.4:c.*548C>T | ENSP00000288943.4:n.*548C>T | |
NM_004418.3:c.*548C>T | NP_004409.1:n.*548C>T | |
XM_017003546.1:c.*548C>T | XP_016859035.1:n.*548C>T | |
NM_004418.4:c.*548C>T MANE Select | NP_004409.1:n.*548C>T |