Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.80854316T>A , CM000667.2:g.80854316T>A | GRCh38 |
| NC_000005.9:g.80150135T>A , CM000667.1:g.80150135T>A | GRCh37 |
| NC_000005.8:g.80185891T>A | NCBI36 |
| NG_016607.1:g.204842T>A | |
| NG_016607.2:g.204842T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002439.5:c.3000T>A MANE Select | NP_002430.3:p.Asp1000Glu |
| ENST00000265081.7:c.3000T>A MANE Select | ENSP00000265081.6:p.Asp1000Glu |
| NM_002439.4:c.3000T>A | NP_002430.3:p.Asp1000Glu |
| ENST00000265081.6:c.3000T>A | ENSP00000265081.6:p.Asp1000Glu |
| ENST00000658259.1:c.2832T>A | ENSP00000499617.1:p.Asp944Glu |
| ENST00000659302.1:c.408T>A | |
| ENST00000667069.1:c.2805T>A | ENSP00000499502.1:p.Asp935Glu |
| ENST00000670357.1:c.*324T>A | ENSP00000499791.1:n.*324T>A |