Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.5015162G>T , CM000666.2:g.5015162G>T | GRCh38 |
| NC_000004.11:g.5016889G>T , CM000666.1:g.5016889G>T | GRCh37 |
| NC_000004.10:g.5067790G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307746.9:c.400C>A MANE Select | ENSP00000303550.4:p.Arg134Ser | |
| ENST00000307746.8:c.400C>A | ENSP00000303550.4:p.Arg134Ser | |
| ENST00000506508.1:c.218C>A | ||
| ENST00000509419.1:c.267C>A | ||
| NM_018659.2:c.400C>A | NP_061129.1:p.Arg134Ser | |
| XR_925085.1:n.149-4761G>T | ||
| XR_925086.1:n.149-4761G>T | ||
| XR_925087.1:n.149-4761G>T | ||
| XM_017008299.1:c.*50C>A | XP_016863788.1:n.*50C>A | |
| NM_018659.3:c.400C>A MANE Select | NP_061129.1:p.Arg134Ser |