HGVS | Genome Assembly |
---|---|
NC_000023.11:g.37805087T>A , CM000685.2:g.37805087T>A | GRCh38 |
NC_000023.10:g.37664340T>A , CM000685.1:g.37664340T>A | GRCh37 |
NC_000023.9:g.37549284T>A | NCBI36 |
NG_009065.1:g.30071T>A , LRG_53:g.30071T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000696170.1:c.*742T>A | ENSP00000512461.1:n.*742T>A | |
ENST00000696171.1:c.1137T>A | ENSP00000512462.1:p.Ile379= | |
ENST00000378588.5:c.1233T>A MANE Select | ENSP00000367851.4:p.Ile411= | |
ENST00000378588.4:c.1233T>A | ENSP00000367851.4:p.Ile411= | |
ENST00000465127.1:c.171+379087T>A | ENSP00000417050.1:n.171+379087T>A | |
NM_000397.3:c.1233T>A , LRG_53t1:c.1233T>A | NP_000388.2:p.Ile411= | |
XM_011543890.1:c.927T>A | XP_011542192.1:p.Ile309= | |
NM_000397.4:c.1233T>A MANE Select | NP_000388.2:p.Ile411= |