HGVS | Genome Assembly |
---|---|
NC_000004.12:g.186197044T= , CM000666.2:g.186197044T= | GRCh38 |
NC_000004.11:g.187118198T= , CM000666.1:g.187118198T= | GRCh37 |
NC_000004.10:g.187355192T= | NCBI36 |
NG_007965.1:g.10525T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378802.5:c.518T= MANE Select | ENSP00000368079.4:p.Leu173= | |
ENST00000378802.4:c.518T= | ENSP00000368079.4:p.Leu173= | |
ENST00000507209.5:n.957T= | ||
NM_207352.3:c.518T= | NP_997235.3:p.Leu173= | |
XM_005262935.2:c.518T= | XP_005262992.1:p.Leu173= | |
XM_006714184.2:c.122T= | XP_006714247.1:p.Leu41= | |
XM_005262935.4:c.518T= | XP_005262992.1:p.Leu173= | |
XM_017008037.1:c.122T= | XP_016863526.1:p.Leu41= | |
NM_207352.4:c.518T= MANE Select | NP_997235.3:p.Leu173= |