HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133256197G= , CM000671.2:g.133256197G= | GRCh38 |
NC_000009.11:g.136131584G= , CM000671.1:g.136131584G= | GRCh37 |
NC_000009.10:g.135121405G= | NCBI36 |
NG_006669.1:g.21471C= | |
NG_006669.2:g.24019C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000453660.4:n.563C= | ||
ENST00000647353.1:n.54-5045C= | ||
ENST00000651471.1:n.489C= | ||
ENST00000679909.1:c.28+18965C= | ENSP00000506089.1:n.28+18965C= | |
ENST00000453660.3:n.545C= | ||
ENST00000538324.2:c.531C= | ENSP00000483018.1:p.Tyr177= | |
ENST00000611156.4:c.531C= | ENSP00000483265.1:p.Tyr177= | |
NM_020469.2:c.534C= | NP_065202.2:p.Tyr178= | |
NM_020469.3:c.534C= | NP_065202.2:p.Tyr178= |