HGVS | Genome Assembly |
---|---|
NC_000017.11:g.44351678G>C , CM000679.2:g.44351678G>C | GRCh38 |
NC_000017.10:g.42429046G>C , CM000679.1:g.42429046G>C | GRCh37 |
NC_000017.9:g.39784572G>C | NCBI36 |
NG_007886.1:g.11556G>C , LRG_661:g.11556G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000053867.8:c.1062G>C MANE Select | ENSP00000053867.2:p.Leu354= | |
ENST00000639447.1:c.1062G>C | ENSP00000492014.1:p.Leu354= | |
ENST00000053867.7:c.1062G>C | ENSP00000053867.2:p.Leu354= | |
ENST00000586443.1:c.503G>C | ||
ENST00000589265.5:c.591G>C | ENSP00000467616.1:p.Leu197= | |
ENST00000589923.1:n.320G>C | ||
NM_002087.3:c.1062G>C | NP_002078.1:p.Leu354= | |
XM_005257253.1:c.1062G>C | XP_005257310.1:p.Leu354= | |
XM_024450730.1:c.1062G>C | XP_024306498.1:p.Leu354= | |
NM_002087.4:c.1062G>C MANE Select | NP_002078.1:p.Leu354= |