HGVS | Genome Assembly |
---|---|
NC_000023.11:g.47572856G>A , CM000685.2:g.47572856G>A | GRCh38 |
NC_000023.10:g.47432255G>A , CM000685.1:g.47432255G>A | GRCh37 |
NC_000023.9:g.47317199G>A | NCBI36 |
NG_008437.1:g.52002C>T | |
NG_016339.1:g.16740G>A | |
NG_016339.2:g.16740G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000295987.13:c.*8C>T MANE Select | ENSP00000295987.7:n.*8C>T | |
ENST00000340666.5:c.*78C>T | ENSP00000343206.4:n.*78C>T | |
ENST00000640721.1:c.176C>T | ENSP00000492857.1:n.176C>T | |
ENST00000295987.11:c.*8C>T | ENSP00000295987.7:n.*8C>T | |
ENST00000340666.4:c.*78C>T | ENSP00000343206.4:n.*78C>T | |
NM_006950.3:c.*8C>T MANE Select | NP_008881.2:n.*8C>T | |
NM_133499.2:c.*78C>T | NP_598006.1:n.*78C>T |