Linked Data
ClinVar Variation Id:
133938
dbSNP Id:
rs587778215
ExAC:
16:3778092 T / A
gnomAD v2:
16-3778092-T-A
gnomAD v3:
16-3728091-T-A
gnomAD v4:
16-3728091-T-A
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3728091T>A , CM000678.2:g.3728091T>A | GRCh38 |
| NC_000016.9:g.3778092T>A , CM000678.1:g.3778092T>A | GRCh37 |
| NC_000016.8:g.3718093T>A | NCBI36 |
| NG_009873.1:g.157030A>T | |
| NG_009873.2:g.157623A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.6956A>T MANE Select | ENSP00000262367.5:p.His2319Leu | |
| ENST00000262367.9:c.6956A>T | ENSP00000262367.5:p.His2319Leu | |
| ENST00000382070.7:c.6842A>T | ENSP00000371502.3:p.His2281Leu | |
| NM_001079846.1:c.6842A>T | NP_001073315.1:p.His2281Leu | |
| NM_004380.2:c.6956A>T | NP_004371.2:p.His2319Leu | |
| XM_005255124.3:c.6911A>T | XP_005255181.1:p.His2304Leu | |
| XM_005255125.3:c.6539A>T | XP_005255182.1:p.His2180Leu | |
| XM_006720848.2:c.6695A>T | XP_006720911.1:p.His2232Leu | |
| XM_011522380.1:c.6902A>T | XP_011520682.1:p.His2301Leu | |
| XM_011522381.1:c.6203A>T | XP_011520683.1:p.His2068Leu | |
| XM_005255124.4:c.6911A>T | XP_005255181.1:p.His2304Leu | |
| XM_005255125.4:c.6539A>T | XP_005255182.1:p.His2180Leu | |
| XM_006720848.3:c.6695A>T | XP_006720911.1:p.His2232Leu | |
| XM_011522381.2:c.6203A>T | XP_011520683.1:p.His2068Leu | |
| XM_017022944.1:c.6950A>T | XP_016878433.1:p.His2317Leu | |
| NM_004380.3:c.6956A>T MANE Select | NP_004371.2:p.His2319Leu |