HGVS | Genome Assembly |
---|---|
NC_000023.11:g.37805083G>T , CM000685.2:g.37805083G>T | GRCh38 |
NC_000023.10:g.37664336G>T , CM000685.1:g.37664336G>T | GRCh37 |
NC_000023.9:g.37549280G>T | NCBI36 |
NG_009065.1:g.30067G>T , LRG_53:g.30067G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000696170.1:c.*738G>T | ENSP00000512461.1:n.*738G>T | |
ENST00000696171.1:c.1133G>T | ENSP00000512462.1:p.Gly378Val | |
ENST00000378588.5:c.1229G>T MANE Select | ENSP00000367851.4:p.Gly410Val | |
ENST00000378588.4:c.1229G>T | ENSP00000367851.4:p.Gly410Val | |
ENST00000465127.1:c.171+379083G>T | ENSP00000417050.1:n.171+379083G>T | |
NM_000397.3:c.1229G>T , LRG_53t1:c.1229G>T | NP_000388.2:p.Gly410Val | |
XM_011543890.1:c.923G>T | XP_011542192.1:p.Gly308Val | |
NM_000397.4:c.1229G>T MANE Select | NP_000388.2:p.Gly410Val |