HGVS | Genome Assembly |
---|---|
NC_000007.14:g.128846793A>G , CM000669.2:g.128846793A>G | GRCh38 |
NC_000007.13:g.128486847A>G , CM000669.1:g.128486847A>G | GRCh37 |
NC_000007.12:g.128274083A>G | NCBI36 |
NG_011807.1:g.21365A>G , LRG_870:g.21365A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000325888.13:c.4176A>G MANE Select | ENSP00000327145.8:p.Glu1392= | |
ENST00000325888.12:c.4176A>G | ENSP00000327145.8:p.Glu1392= | |
ENST00000346177.6:c.4176A>G | ENSP00000344002.6:p.Glu1392= | |
NM_001127487.1:c.4176A>G | NP_001120959.1:p.Glu1392= | |
NM_001458.4:c.4176A>G , LRG_870t1:c.4176A>G | NP_001449.3:p.Glu1392= | |
NM_001127487.2:c.4176A>G | NP_001120959.1:p.Glu1392= | |
NM_001458.5:c.4176A>G MANE Select | NP_001449.3:p.Glu1392= |