HGVS | Genome Assembly |
---|---|
NC_000017.11:g.47744746A>C , CM000679.2:g.47744746A>C | GRCh38 |
NC_000017.10:g.45822112A>C , CM000679.1:g.45822112A>C | GRCh37 |
NC_000017.9:g.43177111A>C | NCBI36 |
NG_012166.1:g.16503A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000177694.2:c.990-2A>C MANE Select | ENSP00000177694.1:n.990-2A>C | |
ENST00000177694.1:c.990-2A>C | ENSP00000177694.1:n.990-2A>C | |
NM_013351.1:c.990-2A>C | NP_037483.1:n.990-2A>C | |
XM_011524698.1:c.1053-2A>C | XP_011523000.1:n.1053-2A>C | |
XM_011524699.1:c.657-2A>C | XP_011523001.1:n.657-2A>C | |
NM_013351.2:c.990-2A>C MANE Select | NP_037483.1:n.990-2A>C |