Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107696016G>C , CM000669.2:g.107696016G>C | GRCh38 |
| NC_000007.13:g.107336461G>C , CM000669.1:g.107336461G>C | GRCh37 |
| NC_000007.12:g.107123697G>C | NCBI36 |
| NG_008489.1:g.40382G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644269.2:c.1521G>C MANE Select | ENSP00000494017.1:p.Leu507Phe | |
| ENST00000644846.1:c.232G>C | ||
| ENST00000265715.7:c.1521G>C | ENSP00000265715.3:p.Leu507Phe | |
| ENST00000477350.5:n.368G>C | ||
| ENST00000480841.5:n.370G>C | ||
| ENST00000497446.5:n.536G>C | ||
| NM_000441.1:c.1521G>C | NP_000432.1:p.Leu507Phe | |
| XM_005250425.1:c.1521G>C | XP_005250482.1:p.Leu507Phe | |
| XM_005250425.2:c.1521G>C | XP_005250482.1:p.Leu507Phe | |
| XM_017012318.1:c.1443G>C | XP_016867807.1:p.Leu481Phe | |
| NM_000441.2:c.1521G>C MANE Select | NP_000432.1:p.Leu507Phe |