HGVS | Genome Assembly |
---|---|
NC_000002.12:g.240874117A>G , CM000664.2:g.240874117A>G | GRCh38 |
NC_000002.11:g.241813534A>G , CM000664.1:g.241813534A>G | GRCh37 |
NC_000002.10:g.241462207A>G | NCBI36 |
NG_008005.1:g.10373A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307503.4:c.680+55A>G MANE Select | ENSP00000302620.3:n.680+55A>G | |
ENST00000307503.3:c.680+55A>G | ENSP00000302620.3:n.680+55A>G | |
ENST00000476698.1:n.333-992A>G | ||
NM_000030.2:c.680+55A>G | NP_000021.1:n.680+55A>G | |
NM_000030.3:c.680+55A>G MANE Select | NP_000021.1:n.680+55A>G |