HGVS | Genome Assembly |
---|---|
NC_000001.11:g.160130635C= , CM000663.2:g.160130635C= | GRCh38 |
NC_000001.10:g.160100425C= , CM000663.1:g.160100425C= | GRCh37 |
NC_000001.9:g.158367049C= | NCBI36 |
NG_008014.1:g.19878C= , LRG_6:g.19878C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361216.8:c.1827+38C= MANE Select | ENSP00000354490.3:n.1827+38C= | |
ENST00000361216.7:c.1827+38C= | ENSP00000354490.3:n.1827+38C= | |
ENST00000392233.7:c.1827+38C= | ENSP00000376066.3:n.1827+38C= | |
ENST00000447527.1:c.959+38C= | ||
ENST00000472488.5:n.1930+38C= | ||
NM_000702.3:c.1827+38C= | NP_000693.1:n.1827+38C= | |
NM_000702.4:c.1827+38C= MANE Select | NP_000693.1:n.1827+38C= |