HGVS | Genome Assembly |
---|---|
NC_000019.10:g.35831128C>G , CM000681.2:g.35831128C>G | GRCh38 |
NC_000019.9:g.36322030C>G , CM000681.1:g.36322030C>G | GRCh37 |
NC_000019.8:g.41013870C>G | NCBI36 |
NG_013356.2:g.43160G>C , LRG_693:g.43160G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000378910.10:c.3406G>C MANE Select | ENSP00000368190.4:p.Glu1136Gln | |
ENST00000353632.6:c.3286G>C | ENSP00000343634.5:p.Glu1096Gln | |
ENST00000378910.9:c.3406G>C | ENSP00000368190.4:p.Glu1136Gln | |
NM_004646.3:c.3406G>C , LRG_693t1:c.3406G>C | NP_004637.1:p.Glu1136Gln | |
NM_004646.4:c.3406G>C MANE Select | NP_004637.1:p.Glu1136Gln |