Linked Data
ClinVar Variation Id:
325960
dbSNP Id:
rs144069104
ExAC:
17:8007454 G / A
gnomAD v2:
17-8007454-G-A
gnomAD v3:
17-8104136-G-A
gnomAD v4:
17-8104136-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8104136G>A , CM000679.2:g.8104136G>A | GRCh38 |
| NC_000017.10:g.8007454G>A , CM000679.1:g.8007454G>A | GRCh37 |
| NC_000017.9:g.7948179G>A | NCBI36 |
| NG_015807.1:g.19781C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318227.4:c.1764C>T | ENSP00000314879.4:p.His588= | |
| ENST00000380149.6:c.1764C>T | ENSP00000369494.2:p.His588= | |
| ENST00000448843.7:c.1764C>T MANE Select | ENSP00000400581.2:p.His588= | |
| ENST00000318227.3:c.2160C>T | ENSP00000314879.3:p.His720= | |
| ENST00000380149.5:c.2232C>T | ENSP00000369494.1:p.His744= | |
| ENST00000448843.6:c.1764C>T | ENSP00000400581.2:p.His588= | |
| NM_001165960.1:c.2160C>T | NP_001159432.1:p.His720= | |
| NM_021628.2:c.1764C>T | NP_067641.2:p.His588= | |
| XM_017024921.2:c.1764C>T | XP_016880410.1:p.His588= | |
| XM_017024922.2:c.1642C>T | XP_016880411.1:p.Arg548Cys | |
| XR_001752579.2:n.1915C>T | ||
| XR_001752580.2:n.1826C>T | ||
| NM_001369446.1:c.1761C>T | NP_001356375.1:p.His587= | |
| NM_021628.3:c.1764C>T MANE Select | NP_067641.2:p.His588= |