HGVS | Genome Assembly |
---|---|
NC_000008.11:g.10622729T>G , CM000670.2:g.10622729T>G | GRCh38 |
NC_000008.10:g.10480239T>G , CM000670.1:g.10480239T>G | GRCh37 |
NC_000008.9:g.10517649T>G | NCBI36 |
NG_028035.1:g.37379A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382483.4:c.473A>C MANE Select | ENSP00000371923.3:p.Lys158Thr | |
ENST00000329335.3:n.723A>C | ||
ENST00000382483.3:c.473A>C | ENSP00000371923.3:p.Lys158Thr | |
NM_178857.5:c.473A>C | NP_849188.4:p.Lys158Thr | |
NM_178857.6:c.473A>C MANE Select | NP_849188.4:p.Lys158Thr |