HGVS | Genome Assembly |
---|---|
NC_000007.14:g.55824073T>G , CM000669.2:g.55824073T>G | GRCh38 |
NC_000007.13:g.55891766T>G , CM000669.1:g.55891766T>G | GRCh37 |
NC_000007.12:g.55859260T>G | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000388975.4:c.721-4850A>C MANE Select | ENSP00000373627.3:n.721-4850A>C | |
ENST00000388975.3:c.721-4850A>C | ENSP00000373627.3:n.721-4850A>C | |
NM_207366.2:c.721-4850A>C | NP_997249.2:n.721-4850A>C | |
XM_011515373.1:c.721-4850A>C | XP_011513675.1:n.721-4850A>C | |
XM_011515373.2:c.721-4850A>C | XP_011513675.1:n.721-4850A>C | |
NM_207366.3:c.721-4850A>C MANE Select | NP_997249.2:n.721-4850A>C |