HGVS | Genome Assembly |
---|---|
NC_000011.10:g.2445460A>C , CM000673.2:g.2445460A>C | GRCh38 |
NC_000011.9:g.2466690A>C , CM000673.1:g.2466690A>C | GRCh37 |
NC_000011.8:g.2423266A>C | NCBI36 |
NG_008935.1:g.5470A>C , LRG_287:g.5470A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000496887.7:c.101A>C | ENSP00000434560.2:p.Lys34Thr | |
ENST00000646564.2:c.362A>C | ENSP00000495806.2:p.Lys121Thr | |
ENST00000155840.12:c.362A>C MANE Select | ENSP00000155840.2:p.Lys121Thr | |
ENST00000646564.1:c.8A>C | ENSP00000495806.1:p.Lys3Thr | |
ENST00000155840.9:c.362A>C | ENSP00000155840.2:p.Lys121Thr | |
ENST00000345015.4:n.139A>C | ||
ENST00000496887.6:c.101A>C | ENSP00000434560.1:p.Lys34Thr | |
NM_000218.2:c.362A>C , LRG_287t1:c.362A>C | NP_000209.2:p.Lys121Thr | |
NM_000218.3:c.362A>C MANE Select | NP_000209.2:p.Lys121Thr |