HGVS | Genome Assembly |
---|---|
NC_000007.14:g.30968907C>G , CM000669.2:g.30968907C>G | GRCh38 |
NC_000007.13:g.31008522C>G , CM000669.1:g.31008522C>G | GRCh37 |
NC_000007.12:g.30975047C>G | NCBI36 |
NG_021416.1:g.9887C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000326139.7:c.131C>G MANE Select | ENSP00000320180.2:p.Ala44Gly | |
ENST00000326139.6:c.131C>G | ENSP00000320180.2:p.Ala44Gly | |
NM_000823.3:c.131C>G | NP_000814.2:p.Ala44Gly | |
NM_000823.4:c.131C>G MANE Select | NP_000814.2:p.Ala44Gly |