Linked Data
ClinVar Variation Id:
1023757
dbSNP Id:
rs760587817
ExAC:
2:29449850 T / G
gnomAD v2:
2-29449850-T-G
gnomAD v4:
2-29226984-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29226984T>G , CM000664.2:g.29226984T>G | GRCh38 |
| NC_000002.11:g.29449850T>G , CM000664.1:g.29449850T>G | GRCh37 |
| NC_000002.10:g.29303354T>G | NCBI36 |
| NG_009445.1:g.699583A>C , LRG_488:g.699583A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.3005A>C MANE Select | ENSP00000373700.3:p.His1002Pro | |
| ENST00000431873.6:c.171A>C | ||
| ENST00000389048.7:c.3005A>C | ENSP00000373700.3:p.His1002Pro | |
| ENST00000618119.4:c.1874A>C | ENSP00000482733.1:p.His625Pro | |
| NM_004304.4:c.3005A>C | NP_004295.2:p.His1002Pro | |
| XM_024452778.1:c.158A>C | XP_024308546.1:p.His53Pro | |
| XR_001738688.2:n.3861A>C | ||
| NM_004304.5:c.3005A>C MANE Select | NP_004295.2:p.His1002Pro |