Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94780561A>C , CM000672.2:g.94780561A>C | GRCh38 |
| NC_000010.10:g.96540318A>C , CM000672.1:g.96540318A>C | GRCh37 |
| NC_000010.9:g.96530308A>C | NCBI36 |
| NG_008384.2:g.22856A>C | |
| NG_008384.3:g.22881A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000769.4:c.544A>C MANE Select | NP_000760.1:p.Ile182Leu |
| ENST00000371321.9:c.544A>C MANE Select | ENSP00000360372.3:p.Ile182Leu |
| NM_000769.2:c.544A>C | NP_000760.1:p.Ile182Leu |
| ENST00000371321.7:c.544A>C | ENSP00000360372.3:p.Ile182Leu |
| ENST00000464755.1:c.1307A>C | ENSP00000483243.1:n.1307A>C |
| ENST00000645461.1:n.1597A>C |