Linked Data
ClinVar Variation Id:
632074
dbSNP Id:
rs148312697
gnomAD v3:
9-133426218-G-C
gnomAD v4:
9-133426218-G-C
MyVariant Identifiers:
chr9:g.133426218G>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133426218G>C , CM000671.2:g.133426218G>C | GRCh38 |
| NC_000009.10:g.135281159G>C | NCBI36 |
| NG_011934.2:g.16880G>C , LRG_544:g.16880G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355699.7:c.559G>C MANE Select | ENSP00000347927.2:p.Asp187His | |
| ENST00000355699.6:c.559G>C | ENSP00000347927.2:p.Asp187His | |
| ENST00000356589.6:c.559G>C | ENSP00000348997.2:p.Asp187His | |
| ENST00000371911.7:c.559G>C | ENSP00000360979.3:p.Asp187His | |
| ENST00000371916.5:c.-186G>C | ENSP00000360984.2:n.-186G>C | |
| ENST00000371929.7:c.559G>C | ENSP00000360997.3:p.Asp187His | |
| ENST00000474918.1:c.559G>C | ENSP00000435305.1:p.Asp187His | |
| ENST00000485925.5:n.741G>C | ||
| ENST00000495234.5:c.559G>C | ENSP00000435274.1:p.Asp187His | |
| NM_139025.4:c.559G>C , LRG_544t1:c.559G>C | NP_620594.1:p.Asp187His | |
| NM_139026.4:c.559G>C | NP_620595.1:p.Asp187His | |
| NM_139027.4:c.559G>C | NP_620596.2:p.Asp187His | |
| NR_024514.2:n.760G>C | ||
| XM_011518174.1:c.169G>C | XP_011516476.1:p.Asp57His | |
| XM_011518175.1:c.559G>C | XP_011516477.1:p.Asp187His | |
| XM_011518180.1:c.559G>C | XP_011516482.1:p.Asp187His | |
| XM_017014232.1:c.547G>C | XP_016869721.1:p.Asp183His | |
| XM_017014233.1:c.169G>C | XP_016869722.1:p.Asp57His | |
| XM_017014234.2:c.-131G>C | XP_016869723.1:n.-131G>C | |
| XM_017014235.1:c.559G>C | XP_016869724.1:p.Asp187His | |
| XR_001746171.1:n.1784G>C | ||
| NM_139026.5:c.559G>C | NP_620595.1:p.Asp187His | |
| NM_139027.5:c.559G>C | NP_620596.2:p.Asp187His | |
| NM_139025.5:c.559G>C | NP_620594.1:p.Asp187His | |
| NM_139026.6:c.559G>C | NP_620595.1:p.Asp187His | |
| NM_139027.6:c.559G>C MANE Select | NP_620596.2:p.Asp187His | |
| NR_024514.3:n.762G>C |