HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133256198T= , CM000671.2:g.133256198T= | GRCh38 |
NC_000009.11:g.136131585T= , CM000671.1:g.136131585T= | GRCh37 |
NC_000009.10:g.135121406T= | NCBI36 |
NG_006669.1:g.21470A= | |
NG_006669.2:g.24018A= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000453660.4:n.562A= | ||
ENST00000647353.1:n.54-5046A= | ||
ENST00000651471.1:n.488A= | ||
ENST00000679909.1:c.28+18964A= | ENSP00000506089.1:n.28+18964A= | |
ENST00000453660.3:n.544A= | ||
ENST00000538324.2:c.530A= | ENSP00000483018.1:p.Tyr177= | |
ENST00000611156.4:c.530A= | ENSP00000483265.1:p.Tyr177= | |
NM_020469.2:c.533A= | NP_065202.2:p.Tyr178= | |
NM_020469.3:c.533A= | NP_065202.2:p.Tyr178= |