HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133256002G= , CM000671.2:g.133256002G= | GRCh38 |
NC_000009.11:g.136131389G= , CM000671.1:g.136131389G= | GRCh37 |
NC_000009.10:g.135121210G= | NCBI36 |
NG_006669.1:g.21666C= | |
NG_006669.2:g.24214C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000453660.4:n.758C= | ||
ENST00000647353.1:n.54-4850C= | ||
ENST00000679909.1:c.28+19160C= | ENSP00000506089.1:n.28+19160C= | |
ENST00000453660.3:n.740C= | ||
ENST00000538324.2:c.726C= | ENSP00000483018.1:p.Ala242= | |
ENST00000611156.4:c.726C= | ENSP00000483265.1:p.Ala242= | |
NM_020469.2:c.729C= | NP_065202.2:p.Ala243= | |
NM_020469.3:c.729C= | NP_065202.2:p.Ala243= |