HGVS | Genome Assembly |
---|---|
NC_000016.10:g.2278479G= , CM000678.2:g.2278479G= | GRCh38 |
NC_000016.9:g.2328480G= , CM000678.1:g.2328480G= | GRCh37 |
NC_000016.8:g.2268481G= | NCBI36 |
NG_011790.1:g.67268C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301732.10:c.4548-21C= MANE Select | ENSP00000301732.5:n.4548-21C= | |
ENST00000301732.9:c.4548-21C= | ENSP00000301732.5:n.4548-21C= | |
ENST00000382381.7:c.4374-21C= | ENSP00000371818.3:n.4374-21C= | |
ENST00000566200.1:n.1069-21C= | ||
NM_001089.2:c.4548-21C= | NP_001080.2:n.4548-21C= | |
NM_001089.3:c.4548-21C= MANE Select | NP_001080.2:n.4548-21C= |