Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38815960A>G , CM000681.2:g.38815960A>G | GRCh38 |
| NC_000019.9:g.39306600A>G , CM000681.1:g.39306600A>G | GRCh37 |
| NC_000019.8:g.43998440A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001398.3:c.779T>C MANE Select | NP_001389.2:p.Leu260Pro |
| ENST00000221418.9:c.779T>C MANE Select | ENSP00000221418.3:p.Leu260Pro |
| NM_001398.2:c.779T>C | NP_001389.2:p.Leu260Pro |
| ENST00000221418.8:c.779T>C | ENSP00000221418.3:p.Leu260Pro |
| ENST00000594391.5:n.581T>C | |
| ENST00000601333.1:n.311T>C | |
| ENST00000601778.5:c.696T>C | |
| XM_017026448.1:c.539T>C | XP_016881937.1:p.Leu180Pro |
| XM_024451408.1:c.965T>C | XP_024307176.1:p.Leu322Pro |
| XM_024451409.1:c.725T>C | XP_024307177.1:p.Leu242Pro |