HGVS | Genome Assembly |
---|---|
NC_000001.11:g.11965474C= , CM000663.2:g.11965474C= | GRCh38 |
NC_000001.10:g.12025531C= , CM000663.1:g.12025531C= | GRCh37 |
NC_000001.9:g.11948118C= | NCBI36 |
NG_008159.1:g.35786C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000196061.5:c.1471-6C= MANE Select | ENSP00000196061.4:n.1471-6C= | |
ENST00000196061.4:c.1471-6C= | ENSP00000196061.4:n.1471-6C= | |
ENST00000470133.1:n.85-6C= | ||
ENST00000491536.5:n.99-6C= | ||
NM_000302.3:c.1471-6C= | NP_000293.2:n.1471-6C= | |
NM_001316320.1:c.1612-6C= | NP_001303249.1:n.1612-6C= | |
XM_011541594.1:c.1552-6C= | XP_011539896.1:n.1552-6C= | |
XM_024447707.1:c.805-6C= | XP_024303475.1:n.805-6C= | |
NM_000302.4:c.1471-6C= MANE Select | NP_000293.2:n.1471-6C= | |
NM_001316320.2:c.1612-6C= | NP_001303249.1:n.1612-6C= |