Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96114968T>G , CM000664.2:g.96114968T>G | GRCh38 |
| NC_000002.11:g.96780716T>G , CM000664.1:g.96780716T>G | GRCh37 |
| NC_000002.10:g.96144443T>G | NCBI36 |
| NG_032950.1:g.6182A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000682.7:c.1182A>C MANE Select | NP_000673.2:p.Gly394= |
| ENST00000620793.2:c.1182A>C MANE Select | ENSP00000480573.1:p.Gly394= |
| NM_000682.6:c.1182A>C | NP_000673.2:p.Gly394= |
| ENST00000620793.1:c.1182A>C | ENSP00000480573.1:p.Gly394= |