HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133257479T= , CM000671.2:g.133257479T= | GRCh38 |
NC_000009.11:g.136132866T= , CM000671.1:g.136132866T= | GRCh37 |
NC_000009.10:g.135122687T= | NCBI36 |
NG_006669.1:g.20189A= | |
NG_006669.2:g.22737A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000453660.4:n.333A= | ||
ENST00000647353.1:n.54-6327A= | ||
ENST00000651471.1:n.329+563A= | ||
ENST00000679909.1:c.28+17683A= | ENSP00000506089.1:n.28+17683A= | |
ENST00000453660.3:n.315A= | ||
ENST00000538324.2:c.301A= | ENSP00000483018.1:p.Ile101= | |
ENST00000611156.4:c.301A= | ENSP00000483265.1:p.Ile101= | |
NM_020469.2:c.304A= | NP_065202.2:p.Ile102= | |
NM_020469.3:c.304A= | NP_065202.2:p.Ile102= |