HGVS | Genome Assembly |
---|---|
NC_000023.11:g.37804082C>A , CM000685.2:g.37804082C>A | GRCh38 |
NC_000023.10:g.37663335C>A , CM000685.1:g.37663335C>A | GRCh37 |
NC_000023.9:g.37548279C>A | NCBI36 |
NG_009065.1:g.29066C>A , LRG_53:g.29066C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000696170.1:c.*612C>A | ENSP00000512461.1:n.*612C>A | |
ENST00000696171.1:c.1007C>A | ENSP00000512462.1:p.Ala336Asp | |
ENST00000378588.5:c.1103C>A MANE Select | ENSP00000367851.4:p.Ala368Asp | |
ENST00000378588.4:c.1103C>A | ENSP00000367851.4:p.Ala368Asp | |
ENST00000465127.1:c.171+378082C>A | ENSP00000417050.1:n.171+378082C>A | |
NM_000397.3:c.1103C>A , LRG_53t1:c.1103C>A | NP_000388.2:p.Ala368Asp | |
XM_011543890.1:c.797C>A | XP_011542192.1:p.Ala266Asp | |
NM_000397.4:c.1103C>A MANE Select | NP_000388.2:p.Ala368Asp |