HGVS | Genome Assembly |
---|---|
NC_000001.11:g.205775418C>A , CM000663.2:g.205775418C>A | GRCh38 |
NC_000001.10:g.205744546C>A , CM000663.1:g.205744546C>A | GRCh37 |
NC_000001.9:g.204011169C>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000367139.8:c.-276G>T MANE Select | ENSP00000356107.3:n.-276G>T | |
ENST00000235932.8:c.-175G>T | ENSP00000235932.4:n.-175G>T | |
ENST00000367139.7:c.-276G>T | ENSP00000356107.3:n.-276G>T | |
ENST00000414729.1:c.-462G>T | ENSP00000402910.1:n.-462G>T | |
ENST00000437324.6:c.-238G>T | ENSP00000416613.2:n.-238G>T | |
ENST00000468887.1:n.23G>T | ||
ENST00000528078.1:c.-276G>T | ENSP00000431483.1:n.-276G>T | |
NM_001135662.1:c.-175G>T | NP_001129134.1:n.-175G>T | |
NM_001135663.1:c.-462G>T | NP_001129135.1:n.-462G>T | |
NM_001135664.1:c.-238G>T | NP_001129136.1:n.-238G>T | |
NM_003929.2:c.-276G>T | NP_003920.1:n.-276G>T | |
XM_005245569.1:c.-180G>T | XP_005245626.1:n.-180G>T | |
XM_005245570.1:c.-281G>T | XP_005245627.1:n.-281G>T | |
XM_005245571.1:c.-147G>T | XP_005245628.1:n.-147G>T | |
XM_006711605.2:c.-137G>T | XP_006711668.1:n.-137G>T | |
XM_006711606.1:c.-109G>T | XP_006711669.1:n.-109G>T | |
XM_006711605.3:c.-137G>T | XP_006711668.1:n.-137G>T | |
XM_006711606.3:c.-109G>T | XP_006711669.1:n.-109G>T | |
XM_017002748.1:c.-276G>T | XP_016858237.1:n.-276G>T | |
XM_017002749.1:c.-281G>T | XP_016858238.1:n.-281G>T | |
XM_017002750.1:c.-175G>T | XP_016858239.1:n.-175G>T | |
NM_003929.3:c.-276G>T MANE Select | NP_003920.1:n.-276G>T | |
NM_001135662.2:c.-175G>T | NP_001129134.1:n.-175G>T | |
NM_001135663.2:c.-462G>T | NP_001129135.1:n.-462G>T | |
NM_001135664.2:c.-238G>T | NP_001129136.1:n.-238G>T |