HGVS | Genome Assembly |
---|---|
NC_000023.11:g.37804100A>T , CM000685.2:g.37804100A>T | GRCh38 |
NC_000023.10:g.37663353A>T , CM000685.1:g.37663353A>T | GRCh37 |
NC_000023.9:g.37548297A>T | NCBI36 |
NG_009065.1:g.29084A>T , LRG_53:g.29084A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000696170.1:c.*630A>T | ENSP00000512461.1:n.*630A>T | |
ENST00000696171.1:c.1025A>T | ENSP00000512462.1:p.Gln342Leu | |
ENST00000378588.5:c.1121A>T MANE Select | ENSP00000367851.4:p.Gln374Leu | |
ENST00000378588.4:c.1121A>T | ENSP00000367851.4:p.Gln374Leu | |
ENST00000465127.1:c.171+378100A>T | ENSP00000417050.1:n.171+378100A>T | |
NM_000397.3:c.1121A>T , LRG_53t1:c.1121A>T | NP_000388.2:p.Gln374Leu | |
XM_011543890.1:c.815A>T | XP_011542192.1:p.Gln272Leu | |
NM_000397.4:c.1121A>T MANE Select | NP_000388.2:p.Gln374Leu |