HGVS | Genome Assembly |
---|---|
NC_000002.12:g.240878774G>A , CM000664.2:g.240878774G>A | GRCh38 |
NC_000002.11:g.241818191G>A , CM000664.1:g.241818191G>A | GRCh37 |
NC_000002.10:g.241466864G>A | NCBI36 |
NG_008005.1:g.15030G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307503.4:c.1132G>A MANE Select | ENSP00000302620.3:p.Glu378Lys | |
ENST00000307503.3:c.1132G>A | ENSP00000302620.3:p.Glu378Lys | |
ENST00000470255.1:n.910G>A | ||
NM_000030.2:c.1132G>A | NP_000021.1:p.Glu378Lys | |
NM_000030.3:c.1132G>A MANE Select | NP_000021.1:p.Glu378Lys |