HGVS | Genome Assembly |
---|---|
NC_000020.11:g.35438219C>A , CM000682.2:g.35438219C>A | GRCh38 |
NC_000020.10:g.34025999C>A , CM000682.1:g.34025999C>A | GRCh37 |
NC_000020.9:g.33489413C>A | NCBI36 |
NG_008076.2:g.5001G>T | |
NG_008076.3:g.21528G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000374369.8:c.-291G>T MANE Select | ENSP00000363489.3:n.-291G>T | |
ENST00000374369.7:c.-291G>T | ENSP00000363489.3:n.-291G>T | |
ENST00000374372.1:c.-241-50G>T | ENSP00000363492.1:n.-241-50G>T | |
XM_011529075.1:c.-241-50G>T | XP_011527377.1:n.-241-50G>T | |
XM_011529076.1:c.-241-50G>T | XP_011527378.1:n.-241-50G>T | |
NM_001319138.1:c.-241-50G>T | NP_001306067.1:n.-241-50G>T | |
NM_000557.5:c.-291G>T MANE Select | NP_000548.2:n.-291G>T | |
NM_001319138.2:c.-241-50G>T | NP_001306067.1:n.-241-50G>T |