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