HGVS | Genome Assembly |
---|---|
NC_000003.12:g.129061507C>A , CM000665.2:g.129061507C>A | GRCh38 |
NC_000003.11:g.128780350C>A , CM000665.1:g.128780350C>A | GRCh37 |
NC_000003.10:g.130263040C>A | NCBI36 |
NG_008715.1:g.5706C>A , LRG_477:g.5706C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307395.5:c.-125C>A MANE Select | ENSP00000303942.4:n.-125C>A | |
ENST00000307395.4:c.-125C>A | ENSP00000303942.4:n.-125C>A | |
NM_000174.4:c.-125C>A , LRG_477t1:c.-125C>A | NP_000165.1:n.-125C>A | |
XM_005247374.3:c.-125C>A | XP_005247431.1:n.-125C>A | |
XM_011512701.1:c.-125C>A | XP_011511003.1:n.-125C>A | |
XM_011512702.1:c.-12-221C>A | XP_011511004.1:n.-12-221C>A | |
NM_000174.5:c.-125C>A MANE Select | NP_000165.1:n.-125C>A |