Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.45123851T>C , CM000682.2:g.45123851T>C | GRCh38 |
| NC_000020.10:g.43752492T>C , CM000682.1:g.43752492T>C | GRCh37 |
| NC_000020.9:g.43185906T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_080869.2:c.331A>G MANE Select | NP_543145.1:p.Lys111Glu |
| ENST00000372785.3:c.331A>G MANE Select | ENSP00000361871.3:p.Lys111Glu |
| NM_080869.1:c.331A>G | NP_543145.1:p.Lys111Glu |