HGVS | Genome Assembly |
---|---|
NC_000023.11:g.139562054A>C , CM000685.2:g.139562054A>C | GRCh38 |
NC_000023.10:g.138644213A>C , CM000685.1:g.138644213A>C | GRCh37 |
NC_000023.9:g.138471879A>C | NCBI36 |
NG_007994.1:g.36319A>C , LRG_556:g.36319A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000218099.7:c.1369A>C MANE Select | ENSP00000218099.2:p.Lys457Gln | |
ENST00000643157.1:n.1723+313A>C | ||
ENST00000218099.6:c.1369A>C | ENSP00000218099.2:p.Lys457Gln | |
ENST00000394090.2:c.1255A>C | ENSP00000377650.2:p.Lys419Gln | |
NM_000133.3:c.1369A>C , LRG_556t1:c.1369A>C | NP_000124.1:p.Lys457Gln | |
NM_001313913.1:c.1255A>C | NP_001300842.1:p.Lys419Gln | |
XM_005262397.3:c.1240A>C | XP_005262454.1:p.Lys414Gln | |
XM_005262397.4:c.1240A>C | XP_005262454.1:p.Lys414Gln | |
NM_000133.4:c.1369A>C MANE Select | NP_000124.1:p.Lys457Gln | |
NM_001313913.2:c.1255A>C | NP_001300842.1:p.Lys419Gln |