HGVS | Genome Assembly |
---|---|
NC_000023.11:g.37803989G= , CM000685.2:g.37803989G= | GRCh38 |
NC_000023.10:g.37663242G= , CM000685.1:g.37663242G= | GRCh37 |
NC_000023.9:g.37548186G= | NCBI36 |
NG_009065.1:g.28973G= , LRG_53:g.28973G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000696170.1:c.*519G= | ENSP00000512461.1:n.*519G= | |
ENST00000696171.1:c.914G= | ENSP00000512462.1:p.Trp305= | |
ENST00000378588.5:c.1010G= MANE Select | ENSP00000367851.4:p.Trp337= | |
ENST00000378588.4:c.1010G= | ENSP00000367851.4:p.Trp337= | |
ENST00000465127.1:c.171+377989G= | ENSP00000417050.1:n.171+377989G= | |
ENST00000492288.1:n.435G= | ||
NM_000397.3:c.1010G= , LRG_53t1:c.1010G= | NP_000388.2:p.Trp337= | |
XM_011543890.1:c.704G= | XP_011542192.1:p.Trp235= | |
NM_000397.4:c.1010G= MANE Select | NP_000388.2:p.Trp337= |