HGVS | Genome Assembly |
---|---|
NC_000004.12:g.55110561T>G , CM000666.2:g.55110561T>G | GRCh38 |
NC_000004.11:g.55976728T>G , CM000666.1:g.55976728T>G | GRCh37 |
NC_000004.10:g.55671485T>G | NCBI36 |
NG_012004.1:g.20035A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000263923.5:c.1097A>C MANE Select | ENSP00000263923.4:p.Lys366Thr | |
ENST00000647068.1:n.1110A>C | ||
ENST00000263923.4:c.1097A>C | ENSP00000263923.4:p.Lys366Thr | |
ENST00000512566.1:n.1097A>C | ||
NM_002253.2:c.1097A>C | NP_002244.1:p.Lys366Thr | |
NM_002253.3:c.1097A>C | NP_002244.1:p.Lys366Thr | |
NM_002253.4:c.1097A>C MANE Select | NP_002244.1:p.Lys366Thr |