HGVS | Genome Assembly |
---|---|
NC_000006.12:g.3154509G>C , CM000668.2:g.3154509G>C | GRCh38 |
NC_000006.11:g.3154743G>C , CM000668.1:g.3154743G>C | GRCh37 |
NC_000006.10:g.3099742G>C | NCBI36 |
NG_042223.1:g.8041C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000333628.4:c.692C>G MANE Select | ENSP00000369703.2:p.Ala231Gly | |
ENST00000679400.1:n.748C>G | ||
ENST00000679907.1:n.1080C>G | ||
ENST00000680036.1:n.1474C>G | ||
ENST00000680967.1:n.1782C>G | ||
ENST00000333628.3:c.692C>G | ENSP00000369703.2:p.Ala231Gly | |
NM_001069.2:c.692C>G | NP_001060.1:p.Ala231Gly | |
NM_001310315.1:c.437C>G | NP_001297244.1:p.Ala146Gly | |
NM_001069.3:c.692C>G MANE Select | NP_001060.1:p.Ala231Gly | |
NM_001310315.2:c.437C>G | NP_001297244.1:p.Ala146Gly |