HGVS | Genome Assembly |
---|---|
NC_000017.11:g.72122770G>C , CM000679.2:g.72122770G>C | GRCh38 |
NC_000017.10:g.70118911G>C , CM000679.1:g.70118911G>C | GRCh37 |
NC_000017.9:g.67630506G>C | NCBI36 |
NG_012490.1:g.6751G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000245479.3:c.483G>C MANE Select | ENSP00000245479.2:p.Leu161= | |
ENST00000245479.2:c.483G>C | ENSP00000245479.2:p.Leu161= | |
NM_000346.3:c.483G>C | NP_000337.1:p.Leu161= | |
NM_000346.4:c.483G>C MANE Select | NP_000337.1:p.Leu161= |