HGVS | Genome Assembly |
---|---|
NC_000022.11:g.41178842T>A , CM000684.2:g.41178842T>A | GRCh38 |
NC_000022.10:g.41574846T>A , CM000684.1:g.41574846T>A | GRCh37 |
NC_000022.9:g.39904792T>A | NCBI36 |
NG_009817.1:g.91233T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000263253.9:c.7131T>A MANE Select | ENSP00000263253.7:p.Ala2377= | |
ENST00000674155.1:c.7053T>A | ENSP00000501078.1:p.Ala2351= | |
ENST00000263253.8:c.7131T>A | ENSP00000263253.7:p.Ala2377= | |
NM_001429.3:c.7131T>A | NP_001420.2:p.Ala2377= | |
XM_006724165.2:c.7053T>A | XP_006724228.1:p.Ala2351= | |
NM_001362843.1:c.7053T>A | NP_001349772.1:p.Ala2351= | |
NM_001429.4:c.7131T>A MANE Select | NP_001420.2:p.Ala2377= | |
NM_001362843.2:c.7053T>A | NP_001349772.1:p.Ala2351= |