HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133255961G= , CM000671.2:g.133255961G= | GRCh38 |
NC_000009.11:g.136131348G= , CM000671.1:g.136131348G= | GRCh37 |
NC_000009.10:g.135121169G= | NCBI36 |
NG_006669.1:g.21707C= | |
NG_006669.2:g.24255C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000453660.4:n.799C= | ||
ENST00000647353.1:n.54-4809C= | ||
ENST00000679909.1:c.28+19201C= | ENSP00000506089.1:n.28+19201C= | |
ENST00000453660.3:n.781C= | ||
ENST00000538324.2:c.767C= | ENSP00000483018.1:p.Pro256= | |
ENST00000611156.4:c.767C= | ENSP00000483265.1:p.Pro256= | |
NM_020469.2:c.770C= | NP_065202.2:p.Pro257= | |
NM_020469.3:c.770C= | NP_065202.2:p.Pro257= |