HGVS | Genome Assembly |
---|---|
NC_000012.12:g.56042170G>C , CM000674.2:g.56042170G>C | GRCh38 |
NC_000012.11:g.56435954G>C , CM000674.1:g.56435954G>C | GRCh37 |
NC_000012.10:g.54722221G>C | NCBI36 |
NG_023201.1:g.5269G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000356464.10:c.3+1G>C | ENSP00000348849.5:n.3+1G>C | |
ENST00000646449.2:c.3+1G>C MANE Select | ENSP00000496643.1:n.3+1G>C | |
ENST00000356464.9:c.3+1G>C | ENSP00000348849.5:n.3+1G>C | |
ENST00000548590.1:n.30+1G>C | ||
ENST00000552361.1:c.3+1G>C | ENSP00000450339.1:n.3+1G>C | |
NM_001029.3:c.3+1G>C | NP_001020.2:n.3+1G>C | |
NM_001029.5:c.3+1G>C MANE Select | NP_001020.2:n.3+1G>C |