Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.841950C>A , CM000671.2:g.841950C>A | GRCh38 |
| NC_000009.11:g.841950C>A , CM000671.1:g.841950C>A | GRCh37 |
| NC_000009.10:g.831950C>A | NCBI36 |
| NG_009221.1:g.5261C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382276.8:c.112C>A MANE Select | ENSP00000371711.3:p.Leu38Ile | |
| ENST00000382276.7:c.112C>A | ENSP00000371711.3:p.Leu38Ile | |
| ENST00000564322.1:n.261C>A | ||
| NM_021951.2:c.112C>A | NP_068770.2:p.Leu38Ile | |
| XM_006716732.1:c.112C>A | XP_006716795.1:p.Leu38Ile | |
| XM_017014375.1:c.112C>A | XP_016869864.1:p.Leu38Ile | |
| NM_021951.3:c.112C>A MANE Select | NP_068770.2:p.Leu38Ile |