HGVS | Genome Assembly |
---|---|
NC_000013.11:g.28355507C>G , CM000675.2:g.28355507C>G | GRCh38 |
NC_000013.10:g.28929644C>G , CM000675.1:g.28929644C>G | GRCh37 |
NC_000013.9:g.27827644C>G | NCBI36 |
NG_012003.1:g.144622G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000282397.9:c.2248+2047G>C MANE Select | ENSP00000282397.4:n.2248+2047G>C | |
ENST00000282397.8:c.2248+2047G>C | ENSP00000282397.4:n.2248+2047G>C | |
NM_002019.4:c.2248+2047G>C MANE Select | NP_002010.2:n.2248+2047G>C | |
XM_017020485.1:c.2248+2047G>C | XP_016875974.1:n.2248+2047G>C |