HGVS | Genome Assembly |
---|---|
NC_000009.12:g.98577937G>C , CM000671.2:g.98577937G>C | GRCh38 |
NC_000009.11:g.101340219G>C , CM000671.1:g.101340219G>C | GRCh37 |
NC_000009.10:g.100380040G>C | NCBI36 |
NG_016426.1:g.136261C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000259455.4:c.457C>G MANE Select | ENSP00000259455.2:p.Gln153Glu | |
ENST00000637410.1:n.235C>G | ||
ENST00000637717.1:c.73C>G | ENSP00000490789.1:p.Gln25Glu | |
ENST00000259455.3:c.457C>G | ENSP00000259455.2:p.Gln153Glu | |
ENST00000634227.1:n.231C>G | ||
NM_005458.7:c.457C>G | NP_005449.5:p.Gln153Glu | |
NM_005458.8:c.457C>G MANE Select | NP_005449.5:p.Gln153Glu |