HGVS | Genome Assembly |
---|---|
NC_000008.11:g.54626129C= , CM000670.2:g.54626129C= | GRCh38 |
NC_000008.10:g.55538689C= , CM000670.1:g.55538689C= | GRCh37 |
NC_000008.9:g.55701242C= | NCBI36 |
NG_009840.1:g.15063C= | |
NG_009840.2:g.15063C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000220676.2:c.2247C= MANE Select | ENSP00000220676.1:p.Leu749= | |
ENST00000636932.1:c.787+3841C= | ENSP00000489857.1:n.787+3841C= | |
ENST00000637698.1:c.787+3841C= | ENSP00000490104.1:n.787+3841C= | |
ENST00000220676.1:c.2247C= | ENSP00000220676.1:p.Leu749= | |
NM_006269.1:c.2247C= | NP_006260.1:p.Leu749= | |
XM_017013721.1:c.2268C= | XP_016869210.1:p.Leu756= | |
XM_017013722.1:c.2247C= | XP_016869211.1:p.Leu749= | |
NM_001375654.1:c.787+3841C= | NP_001362583.1:n.787+3841C= | |
NM_006269.2:c.2247C= MANE Select | NP_006260.1:p.Leu749= |