Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94781921T>C , CM000672.2:g.94781921T>C | GRCh38 |
| NC_000010.10:g.96541678T>C , CM000672.1:g.96541678T>C | GRCh37 |
| NC_000010.9:g.96531668T>C | NCBI36 |
| NG_008384.2:g.24216T>C | |
| NG_008384.3:g.24241T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.743T>C MANE Select | ENSP00000360372.3:p.Val248Ala | |
| ENST00000645461.1:n.1796T>C | ||
| ENST00000371321.7:c.743T>C | ENSP00000360372.3:p.Val248Ala | |
| ENST00000464755.1:c.1506T>C | ENSP00000483243.1:n.1506T>C | |
| NM_000769.2:c.743T>C | NP_000760.1:p.Val248Ala | |
| NM_000769.4:c.743T>C MANE Select | NP_000760.1:p.Val248Ala |