HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133255993G= , CM000671.2:g.133255993G= | GRCh38 |
NC_000009.11:g.136131380G= , CM000671.1:g.136131380G= | GRCh37 |
NC_000009.10:g.135121201G= | NCBI36 |
NG_006669.1:g.21675C= | |
NG_006669.2:g.24223C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000453660.4:n.767C= | ||
ENST00000647353.1:n.54-4841C= | ||
ENST00000679909.1:c.28+19169C= | ENSP00000506089.1:n.28+19169C= | |
ENST00000453660.3:n.749C= | ||
ENST00000538324.2:c.735C= | ENSP00000483018.1:p.Tyr245= | |
ENST00000611156.4:c.735C= | ENSP00000483265.1:p.Tyr245= | |
NM_020469.2:c.738C= | NP_065202.2:p.Tyr246= | |
NM_020469.3:c.738C= | NP_065202.2:p.Tyr246= |