HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55157640T>G , CM000681.2:g.55157640T>G | GRCh38 |
NC_000019.9:g.55669008T>G , CM000681.1:g.55669008T>G | GRCh37 |
NC_000019.8:g.60360820T>G | NCBI36 |
NG_007866.2:g.5093A>C , LRG_432:g.5093A>C | |
NG_032759.1:g.14083A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000344887.10:c.-51A>C MANE Select | ENSP00000341838.5:n.-51A>C | |
ENST00000665070.1:c.-51A>C | ENSP00000499482.1:n.-51A>C | |
ENST00000344887.9:c.-51A>C | ENSP00000341838.5:n.-51A>C | |
ENST00000586446.1:n.93A>C | ||
ENST00000587176.5:n.134A>C | ||
ENST00000587871.1:c.570A>C | ||
ENST00000590463.1:n.77A>C | ||
NM_000363.4:c.-51A>C , LRG_432t1:c.-51A>C | NP_000354.4:n.-51A>C | |
NM_000363.5:c.-51A>C MANE Select | NP_000354.4:n.-51A>C |