HGVS | Genome Assembly |
---|---|
NC_000002.12:g.240878591C>A , CM000664.2:g.240878591C>A | GRCh38 |
NC_000002.11:g.241818008C>A , CM000664.1:g.241818008C>A | GRCh37 |
NC_000002.10:g.241466681C>A | NCBI36 |
NG_008005.1:g.14847C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307503.4:c.1072-123C>A MANE Select | ENSP00000302620.3:n.1072-123C>A | |
ENST00000307503.3:c.1072-123C>A | ENSP00000302620.3:n.1072-123C>A | |
ENST00000470255.1:n.850-123C>A | ||
NM_000030.2:c.1072-123C>A | NP_000021.1:n.1072-123C>A | |
NM_000030.3:c.1072-123C>A MANE Select | NP_000021.1:n.1072-123C>A |