HGVS | Genome Assembly |
---|---|
NC_000009.12:g.98577937G>T , CM000671.2:g.98577937G>T | GRCh38 |
NC_000009.11:g.101340219G>T , CM000671.1:g.101340219G>T | GRCh37 |
NC_000009.10:g.100380040G>T | NCBI36 |
NG_016426.1:g.136261C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000259455.4:c.457C>A MANE Select | ENSP00000259455.2:p.Gln153Lys | |
ENST00000637410.1:n.235C>A | ||
ENST00000637717.1:c.73C>A | ENSP00000490789.1:p.Gln25Lys | |
ENST00000259455.3:c.457C>A | ENSP00000259455.2:p.Gln153Lys | |
ENST00000634227.1:n.231C>A | ||
NM_005458.7:c.457C>A | NP_005449.5:p.Gln153Lys | |
NM_005458.8:c.457C>A MANE Select | NP_005449.5:p.Gln153Lys |