Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.27095564C>T , CM000669.2:g.27095564C>T | GRCh38 |
| NC_000007.13:g.27135183C>T , CM000669.1:g.27135183C>T | GRCh37 |
| NC_000007.12:g.27101708C>T | NCBI36 |
| NG_011813.1:g.5443G>A | |
| NG_033087.1:g.4471C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643460.2:c.349G>A MANE Select | ENSP00000494260.2:p.Ala117Thr | |
| ENST00000343060.4:c.349G>A | ENSP00000343246.4:p.Ala117Thr | |
| ENST00000355633.5:c.349G>A | ENSP00000347851.5:p.Ala117Thr | |
| NM_005522.4:c.349G>A | NP_005513.1:p.Ala117Thr | |
| NM_153620.2:c.349G>A | NP_705873.2:p.Ala117Thr | |
| NM_005522.5:c.349G>A MANE Select | NP_005513.2:p.Ala117Thr | |
| NM_153620.3:c.349G>A | NP_705873.3:p.Ala117Thr |