HGVS | Genome Assembly |
---|---|
NC_000011.10:g.2445459A>C , CM000673.2:g.2445459A>C | GRCh38 |
NC_000011.9:g.2466689A>C , CM000673.1:g.2466689A>C | GRCh37 |
NC_000011.8:g.2423265A>C | NCBI36 |
NG_008935.1:g.5469A>C , LRG_287:g.5469A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000496887.7:c.100A>C | ENSP00000434560.2:p.Lys34Gln | |
ENST00000646564.2:c.361A>C | ENSP00000495806.2:p.Lys121Gln | |
ENST00000155840.12:c.361A>C MANE Select | ENSP00000155840.2:p.Lys121Gln | |
ENST00000646564.1:c.7A>C | ENSP00000495806.1:p.Lys3Gln | |
ENST00000155840.9:c.361A>C | ENSP00000155840.2:p.Lys121Gln | |
ENST00000345015.4:n.138A>C | ||
ENST00000496887.6:c.100A>C | ENSP00000434560.1:p.Lys34Gln | |
NM_000218.2:c.361A>C , LRG_287t1:c.361A>C | NP_000209.2:p.Lys121Gln | |
NM_000218.3:c.361A>C MANE Select | NP_000209.2:p.Lys121Gln |