Linked Data
ClinVar Variation Id:
2064271
ClinVar RCV Id:
RCV002943340
dbSNP Id:
rs748565790
ExAC:
16:3778971 A / T
gnomAD v2:
16-3778971-A-T
gnomAD v3:
16-3728970-A-T
gnomAD v4:
16-3728970-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3728970A>T , CM000678.2:g.3728970A>T | GRCh38 |
| NC_000016.9:g.3778971A>T , CM000678.1:g.3778971A>T | GRCh37 |
| NC_000016.8:g.3718972A>T | NCBI36 |
| NG_009873.1:g.156151T>A | |
| NG_009873.2:g.156744T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.6077T>A MANE Select | ENSP00000262367.5:p.Leu2026His | |
| ENST00000262367.9:c.6077T>A | ENSP00000262367.5:p.Leu2026His | |
| ENST00000382070.7:c.5963T>A | ENSP00000371502.3:p.Leu1988His | |
| NM_001079846.1:c.5963T>A | NP_001073315.1:p.Leu1988His | |
| NM_004380.2:c.6077T>A | NP_004371.2:p.Leu2026His | |
| XM_005255124.3:c.6032T>A | XP_005255181.1:p.Leu2011His | |
| XM_005255125.3:c.5660T>A | XP_005255182.1:p.Leu1887His | |
| XM_006720848.2:c.5816T>A | XP_006720911.1:p.Leu1939His | |
| XM_011522380.1:c.6023T>A | XP_011520682.1:p.Leu2008His | |
| XM_011522381.1:c.5324T>A | XP_011520683.1:p.Leu1775His | |
| XM_005255124.4:c.6032T>A | XP_005255181.1:p.Leu2011His | |
| XM_005255125.4:c.5660T>A | XP_005255182.1:p.Leu1887His | |
| XM_006720848.3:c.5816T>A | XP_006720911.1:p.Leu1939His | |
| XM_011522381.2:c.5324T>A | XP_011520683.1:p.Leu1775His | |
| XM_017022944.1:c.6071T>A | XP_016878433.1:p.Leu2024His | |
| NM_004380.3:c.6077T>A MANE Select | NP_004371.2:p.Leu2026His |