HGVS | Genome Assembly |
---|---|
NC_000012.12:g.101830842G>A , CM000674.2:g.101830842G>A | GRCh38 |
NC_000012.11:g.102224620G>A , CM000674.1:g.102224620G>A | GRCh37 |
NC_000012.10:g.100748751G>A | NCBI36 |
NG_021243.1:g.5026C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000299314.12:c.-167C>T MANE Select | ENSP00000299314.7:n.-167C>T | |
ENST00000299314.11:c.-167C>T | ENSP00000299314.7:n.-167C>T | |
ENST00000392919.4:c.-167C>T | ENSP00000376651.4:n.-167C>T | |
NM_024312.4:c.-167C>T | NP_077288.2:n.-167C>T | |
XM_006719593.2:c.-167C>T | XP_006719656.1:n.-167C>T | |
NM_024312.5:c.-167C>T MANE Select | NP_077288.2:n.-167C>T |