HGVS | Genome Assembly |
---|---|
NC_000019.10:g.43552168C>T , CM000681.2:g.43552168C>T | GRCh38 |
NC_000019.9:g.44056320C>T , CM000681.1:g.44056320C>T | GRCh37 |
NC_000019.8:g.48748160C>T | NCBI36 |
NG_033799.1:g.28411G>A , LRG_784:g.28411G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000262887.10:c.931G>A MANE Select | ENSP00000262887.5:p.Ala311Thr | |
ENST00000262887.9:c.931G>A | ENSP00000262887.4:p.Ala311Thr | |
ENST00000543982.5:c.838G>A | ENSP00000443671.1:p.Ala280Thr | |
ENST00000595789.5:n.1052G>A | ||
ENST00000597811.5:c.541G>A | ||
ENST00000598422.1:n.611G>A | ||
NM_006297.2:c.931G>A , LRG_784t1:c.931G>A | NP_006288.2:p.Ala311Thr | |
NM_006297.3:c.931G>A MANE Select | NP_006288.2:p.Ala311Thr |