HGVS | Genome Assembly |
---|---|
NC_000007.14:g.21854388C= , CM000669.2:g.21854388C= | GRCh38 |
NC_000007.13:g.21894006C= , CM000669.1:g.21894006C= | GRCh37 |
NC_000007.12:g.21860531C= | NCBI36 |
NG_012886.2:g.316174C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000409508.8:c.11135C= MANE Select | ENSP00000475939.1:p.Ala3712= | |
ENST00000328843.10:c.11156C= | ENSP00000330671.7:p.Ala3719= | |
ENST00000409508.7:c.11135C= | ENSP00000475939.1:p.Ala3712= | |
ENST00000421290.1:n.318C= | ||
ENST00000607413.5:n.398C= | ||
ENST00000620169.4:c.11156C= | ENSP00000481693.1:p.Ala3719= | |
NM_001277115.1:c.11135C= | NP_001264044.1:p.Ala3712= | |
NM_001277115.2:c.11135C= MANE Select | NP_001264044.1:p.Ala3712= |