HGVS | Genome Assembly |
---|---|
NC_000017.11:g.74763359C= , CM000679.2:g.74763359C= | GRCh38 |
NC_000017.10:g.72759498C= , CM000679.1:g.72759498C= | GRCh37 |
NC_000017.9:g.70271093C= | NCBI36 |
NG_013022.1:g.19736C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000262613.10:c.604-8C= MANE Select | ENSP00000262613.5:n.604-8C= | |
ENST00000262613.9:c.604-8C= | ENSP00000262613.5:n.604-8C= | |
ENST00000413388.2:c.136-8C= | ENSP00000464982.1:n.136-8C= | |
ENST00000578958.1:n.330C= | ||
ENST00000583369.5:c.442-4788C= | ENSP00000464321.1:n.442-4788C= | |
NM_004252.4:c.604-8C= | NP_004243.1:n.604-8C= | |
XR_002958087.1:n.823-8C= | ||
NM_004252.5:c.604-8C= MANE Select | NP_004243.1:n.604-8C= |