Linked Data
ClinVar Variation Id:
1730533
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73322740A>T , CM000677.2:g.73322740A>T | GRCh38 |
| NC_000015.9:g.73615081A>T , CM000677.1:g.73615081A>T | GRCh37 |
| NC_000015.8:g.71402134A>T | NCBI36 |
| NG_009063.1:g.51525T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.3353T>A MANE Select | ENSP00000261917.3:p.Leu1118His | |
| ENST00000261917.3:c.3353T>A | ENSP00000261917.3:p.Leu1118His | |
| NM_005477.2:c.3353T>A | NP_005468.1:p.Leu1118His | |
| XM_011521148.1:c.2135T>A | XP_011519450.1:p.Leu712His | |
| XM_011521148.2:c.2135T>A | XP_011519450.1:p.Leu712His | |
| NM_005477.3:c.3353T>A MANE Select | NP_005468.1:p.Leu1118His |