HGVS | Genome Assembly |
---|---|
NC_000023.11:g.37804002A>C , CM000685.2:g.37804002A>C | GRCh38 |
NC_000023.10:g.37663255A>C , CM000685.1:g.37663255A>C | GRCh37 |
NC_000023.9:g.37548199A>C | NCBI36 |
NG_009065.1:g.28986A>C , LRG_53:g.28986A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000696170.1:c.*532A>C | ENSP00000512461.1:n.*532A>C | |
ENST00000696171.1:c.927A>C | ENSP00000512462.1:p.Thr309= | |
ENST00000378588.5:c.1023A>C MANE Select | ENSP00000367851.4:p.Thr341= | |
ENST00000378588.4:c.1023A>C | ENSP00000367851.4:p.Thr341= | |
ENST00000465127.1:c.171+378002A>C | ENSP00000417050.1:n.171+378002A>C | |
ENST00000492288.1:n.448A>C | ||
NM_000397.3:c.1023A>C , LRG_53t1:c.1023A>C | NP_000388.2:p.Thr341= | |
XM_011543890.1:c.717A>C | XP_011542192.1:p.Thr239= | |
NM_000397.4:c.1023A>C MANE Select | NP_000388.2:p.Thr341= |