HGVS | Genome Assembly |
---|---|
NC_000007.14:g.94417801T>G , CM000669.2:g.94417801T>G | GRCh38 |
NC_000007.13:g.94047113T>G , CM000669.1:g.94047113T>G | GRCh37 |
NC_000007.12:g.93885049T>G | NCBI36 |
NG_007405.1:g.28241T>G , LRG_2:g.28241T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000297268.11:c.1941T>G MANE Select | ENSP00000297268.6:p.Ala647= | |
ENST00000297268.10:c.1941T>G | ENSP00000297268.6:p.Ala647= | |
ENST00000461525.5:n.30T>G | ||
ENST00000473573.5:n.278T>G | ||
ENST00000497316.5:n.338T>G | ||
ENST00000620463.1:c.1935T>G | ENSP00000477719.1:p.Ala645= | |
NM_000089.3:c.1941T>G , LRG_2t1:c.1941T>G | NP_000080.2:p.Ala647= | |
NM_000089.4:c.1941T>G MANE Select | NP_000080.2:p.Ala647= |