HGVS | Genome Assembly |
---|---|
NC_000004.12:g.42001654A>C , CM000666.2:g.42001654A>C | GRCh38 |
NC_000004.11:g.42003671A>C , CM000666.1:g.42003671A>C | GRCh37 |
NC_000004.10:g.41698428A>C | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000264451.12:c.148A>C MANE Select | ENSP00000264451.6:p.Met50Leu | |
ENST00000264451.11:c.148A>C | ENSP00000264451.6:p.Met50Leu | |
ENST00000510460.1:n.273A>C | ||
ENST00000513699.5:c.148A>C | ENSP00000423529.1:p.Met50Leu | |
NM_006345.3:c.148A>C | NP_006336.3:p.Met50Leu | |
XM_011513620.1:c.148A>C | XP_011511922.1:p.Met50Leu | |
XM_017007654.2:c.148A>C | XP_016863143.1:p.Met50Leu | |
XR_001741095.2:n.298A>C | ||
NM_006345.4:c.148A>C MANE Select | NP_006336.3:p.Met50Leu |