Linked Data
ClinVar Variation Id:
2917658
ClinVar RCV Id:
RCV003737793
dbSNP Id:
rs777957241
ExAC:
3:148880521 A / G
gnomAD v2:
3-148880521-A-G
gnomAD v4:
3-149162734-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.149162734A>G , CM000665.2:g.149162734A>G | GRCh38 |
| NC_000003.11:g.148880521A>G , CM000665.1:g.148880521A>G | GRCh37 |
| NC_000003.10:g.150363211A>G | NCBI36 |
| NG_009847.1:g.38151A>G | |
| NG_011800.2:g.64312T>C | |
| NG_011800.3:g.64312T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296051.7:c.2337A>G (HPS3) MANE Select | ENSP00000296051.2:p.Val779= | |
| ENST00000296051.6:c.2337A>G (HPS3) | ENSP00000296051.2:p.Val779= | |
| ENST00000460120.5:c.1842A>G (HPS3) | ENSP00000418230.1:p.Val614= | |
| ENST00000460822.1:c.465A>G (HPS3) | ENSP00000419824.1:p.Val155= | |
| ENST00000479771.5:c.833T>C (CP) | ENSP00000420367.1:n.833T>C | |
| ENST00000481169.5:c.*211T>C (CP) | ENSP00000418773.1:n.*211T>C | |
| NM_001308258.1:c.1842A>G (HPS3) | NP_001295187.1:p.Val614= | |
| NM_032383.3:c.2337A>G (HPS3) | NP_115759.2:p.Val779= | |
| NM_032383.4:c.2337A>G (HPS3) | NP_115759.2:p.Val779= | |
| NR_046371.1:n.3305T>C (CP) | ||
| XM_005247834.3:c.*46A>G (HPS3) | XP_005247891.1:n.*46A>G | |
| XM_006713499.2:c.*155T>C (CP) | XP_006713562.1:n.*155T>C | |
| XM_006713788.1:c.2337A>G (HPS3) | XP_006713851.1:p.Val779= | |
| XM_011512435.1:c.*155T>C (CP) | XP_011510737.1:n.*155T>C | |
| XR_427361.2:n.3523T>C (CP) | ||
| XR_924201.1:n.2452A>G (HPS3) | ||
| XM_005247834.4:c.*46A>G (HPS3) | XP_005247891.1:n.*46A>G | |
| XM_006713499.3:c.*155T>C (CP) | XP_006713562.1:n.*155T>C | |
| XM_011512435.2:c.*155T>C (CP) | XP_011510737.1:n.*155T>C | |
| XM_017007323.2:c.2337A>G (HPS3) | XP_016862812.1:p.Val779= | |
| XR_001740326.2:n.2437A>G (HPS3) | ||
| XR_001740327.2:n.2437A>G (HPS3) | ||
| XR_001740328.2:n.2437A>G (HPS3) | ||
| XR_427361.3:n.3481T>C (CP) | ||
| XR_924201.3:n.2437A>G (HPS3) | ||
| NM_001308258.2:c.1842A>G (HPS3) | NP_001295187.1:p.Val614= | |
| NM_032383.5:c.2337A>G (HPS3) MANE Select | NP_115759.2:p.Val779= | |
| NR_046371.2:n.3089T>C (CP) |