HGVS | Genome Assembly |
---|---|
NC_000007.14:g.21748676T>G , CM000669.2:g.21748676T>G | GRCh38 |
NC_000007.13:g.21788294T>G , CM000669.1:g.21788294T>G | GRCh37 |
NC_000007.12:g.21754819T>G | NCBI36 |
NG_012886.2:g.210462T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000409508.8:c.8607T>G MANE Select | ENSP00000475939.1:p.Ala2869= | |
ENST00000328843.10:c.8628T>G | ENSP00000330671.7:p.Ala2876= | |
ENST00000409508.7:c.8607T>G | ENSP00000475939.1:p.Ala2869= | |
ENST00000620169.4:c.8628T>G | ENSP00000481693.1:p.Ala2876= | |
NM_001277115.1:c.8607T>G | NP_001264044.1:p.Ala2869= | |
NM_001277115.2:c.8607T>G MANE Select | NP_001264044.1:p.Ala2869= |