HGVS | Genome Assembly |
---|---|
NC_000024.10:g.2842113G>A , CM000686.2:g.2842113G>A | GRCh38 |
NC_000024.9:g.2710154G>A , CM000686.1:g.2710154G>A | GRCh37 |
NC_000024.8:g.2770154G>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000679518.1:n.249-52G>A | ||
ENST00000681787.1:n.305-52G>A | ||
ENST00000681940.1:n.107-3533G>A | ||
ENST00000250784.13:c.4-52G>A MANE Select | ENSP00000250784.7:n.4-52G>A | |
ENST00000250784.12:c.4-52G>A | ENSP00000250784.7:n.4-52G>A | |
ENST00000430575.1:c.31-52G>A | ENSP00000415317.1:n.31-52G>A | |
NM_001008.3:c.4-52G>A | NP_000999.1:n.4-52G>A | |
NM_001008.4:c.4-52G>A MANE Select | NP_000999.1:n.4-52G>A |