HGVS | Genome Assembly |
---|---|
NC_000003.12:g.129061478C>T , CM000665.2:g.129061478C>T | GRCh38 |
NC_000003.11:g.128780321C>T , CM000665.1:g.128780321C>T | GRCh37 |
NC_000003.10:g.130263011C>T | NCBI36 |
NG_008715.1:g.5677C>T , LRG_477:g.5677C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307395.5:c.-138-16C>T MANE Select | ENSP00000303942.4:n.-138-16C>T | |
ENST00000307395.4:c.-138-16C>T | ENSP00000303942.4:n.-138-16C>T | |
NM_000174.4:c.-138-16C>T , LRG_477t1:c.-138-16C>T | NP_000165.1:n.-138-16C>T | |
XM_005247374.3:c.-138-16C>T | XP_005247431.1:n.-138-16C>T | |
XM_011512701.1:c.-138-16C>T | XP_011511003.1:n.-138-16C>T | |
XM_011512702.1:c.-12-250C>T | XP_011511004.1:n.-12-250C>T | |
NM_000174.5:c.-138-16C>T MANE Select | NP_000165.1:n.-138-16C>T |