HGVS | Genome Assembly |
---|---|
NC_000008.11:g.54625969T= , CM000670.2:g.54625969T= | GRCh38 |
NC_000008.10:g.55538529T= , CM000670.1:g.55538529T= | GRCh37 |
NC_000008.9:g.55701082T= | NCBI36 |
NG_009840.1:g.14903T= | |
NG_009840.2:g.14903T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000220676.2:c.2087T= MANE Select | ENSP00000220676.1:p.Leu696= | |
ENST00000636932.1:c.787+3681T= | ENSP00000489857.1:n.787+3681T= | |
ENST00000637698.1:c.787+3681T= | ENSP00000490104.1:n.787+3681T= | |
ENST00000220676.1:c.2087T= | ENSP00000220676.1:p.Leu696= | |
NM_006269.1:c.2087T= | NP_006260.1:p.Leu696= | |
XM_017013721.1:c.2108T= | XP_016869210.1:p.Leu703= | |
XM_017013722.1:c.2087T= | XP_016869211.1:p.Leu696= | |
NM_001375654.1:c.787+3681T= | NP_001362583.1:n.787+3681T= | |
NM_006269.2:c.2087T= MANE Select | NP_006260.1:p.Leu696= |