HGVS | Genome Assembly |
---|---|
NC_000016.10:g.2315431G>T , CM000678.2:g.2315431G>T | GRCh38 |
NC_000016.9:g.2365432G>T , CM000678.1:g.2365432G>T | GRCh37 |
NC_000016.8:g.2305433G>T | NCBI36 |
NG_011790.1:g.30316C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301732.10:c.1111+1852C>A MANE Select | ENSP00000301732.5:n.1111+1852C>A | |
ENST00000301732.9:c.1111+1852C>A | ENSP00000301732.5:n.1111+1852C>A | |
ENST00000382381.7:c.1111+1852C>A | ENSP00000371818.3:n.1111+1852C>A | |
ENST00000563623.5:n.1674+1852C>A | ||
NM_001089.2:c.1111+1852C>A | NP_001080.2:n.1111+1852C>A | |
NM_001089.3:c.1111+1852C>A MANE Select | NP_001080.2:n.1111+1852C>A |