Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35805973G>A , CM000668.2:g.35805973G>A | GRCh38 |
| NC_000006.11:g.35773750G>A , CM000668.1:g.35773750G>A | GRCh37 |
| NC_000006.10:g.35881728G>A | NCBI36 |
| NG_012184.1:g.5680G>A | |
| NG_012184.2:g.5680G>A | |
| NG_012184.3:g.13768G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360215.3:c.303G>A MANE Select | ENSP00000353346.1:p.Val101= | |
| ENST00000651132.1:c.303G>A | ENSP00000498322.1:p.Val101= | |
| ENST00000651676.1:c.303G>A | ENSP00000498699.1:p.Val101= | |
| ENST00000651994.1:c.303G>A | ENSP00000498310.1:p.Val101= | |
| ENST00000652718.1:c.135G>A | ENSP00000498866.1:p.Val45= | |
| ENST00000360215.2:c.303G>A | ENSP00000353346.1:p.Val101= | |
| NM_182548.3:c.303G>A | NP_872354.1:p.Val101= | |
| XM_011514403.1:c.303G>A | XP_011512705.1:p.Val101= | |
| NM_182548.4:c.303G>A MANE Select | NP_872354.1:p.Val101= |