HGVS | Genome Assembly |
---|---|
NC_000007.14:g.152648843T>C , CM000669.2:g.152648843T>C | GRCh38 |
NC_000007.13:g.152345928T>C , CM000669.1:g.152345928T>C | GRCh37 |
NC_000007.12:g.151976861T>C | NCBI36 |
NG_027988.1:g.32323A>G | |
NG_027988.2:g.32323A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000698506.1:c.474A>G | ENSP00000513758.1:p.Arg158= | |
ENST00000359321.2:c.642A>G MANE Select | ENSP00000352271.1:p.Arg214= | |
ENST00000359321.1:c.642A>G | ENSP00000352271.1:p.Arg214= | |
ENST00000495707.1:n.664A>G | ||
NM_005431.1:c.642A>G | NP_005422.1:p.Arg214= | |
NM_005431.2:c.642A>G MANE Select | NP_005422.1:p.Arg214= |