Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.136046429G>T , CM000667.2:g.136046429G>T | GRCh38 |
| NC_000005.9:g.135382118G>T , CM000667.1:g.135382118G>T | GRCh37 |
| NC_000005.8:g.135410017G>T | NCBI36 |
| NG_012646.1:g.22535G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000358.3:c.393G>T MANE Select | NP_000349.1:p.Glu131Asp |
| ENST00000442011.7:c.393G>T MANE Select | ENSP00000416330.2:p.Glu131Asp |
| NM_000358.2:c.393G>T | NP_000349.1:p.Glu131Asp |
| ENST00000442011.6:c.393G>T | ENSP00000416330.2:p.Glu131Asp |
| ENST00000504185.5:n.550G>T | |
| ENST00000506699.5:n.458G>T | |
| ENST00000507018.5:c.310G>T | |
| ENST00000515433.1:n.685G>T |