Linked Data
ClinVar Variation Id:
1903961
ClinVar RCV Id:
RCV002577331
dbSNP Id:
rs1429446149
gnomAD v2:
3-148880627-C-T
gnomAD v4:
3-149162840-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.149162840C>T , CM000665.2:g.149162840C>T | GRCh38 |
| NC_000003.11:g.148880627C>T , CM000665.1:g.148880627C>T | GRCh37 |
| NC_000003.10:g.150363317C>T | NCBI36 |
| NG_009847.1:g.38257C>T | |
| NG_011800.2:g.64206G>A | |
| NG_011800.3:g.64206G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296051.7:c.2443C>T (HPS3) MANE Select | ENSP00000296051.2:p.Pro815Ser | |
| ENST00000296051.6:c.2443C>T (HPS3) | ENSP00000296051.2:p.Pro815Ser | |
| ENST00000460120.5:c.1948C>T (HPS3) | ENSP00000418230.1:p.Pro650Ser | |
| ENST00000460822.1:c.571C>T (HPS3) | ENSP00000419824.1:p.Pro191Ser | |
| ENST00000479771.5:c.727G>A (CP) | ENSP00000420367.1:n.727G>A | |
| ENST00000481169.5:c.*105G>A (CP) | ENSP00000418773.1:n.*105G>A | |
| NM_001308258.1:c.1948C>T (HPS3) | NP_001295187.1:p.Pro650Ser | |
| NM_032383.3:c.2443C>T (HPS3) | NP_115759.2:p.Pro815Ser | |
| NM_032383.4:c.2443C>T (HPS3) | NP_115759.2:p.Pro815Ser | |
| NR_046371.1:n.3199G>A (CP) | ||
| XM_006713499.2:c.*49G>A (CP) | XP_006713562.1:n.*49G>A | |
| XM_006713788.1:c.2443C>T (HPS3) | XP_006713851.1:p.Pro815Ser | |
| XM_011512435.1:c.*49G>A (CP) | XP_011510737.1:n.*49G>A | |
| XR_427361.2:n.3417G>A (CP) | ||
| XR_924201.1:n.2558C>T (HPS3) | ||
| XM_006713499.3:c.*49G>A (CP) | XP_006713562.1:n.*49G>A | |
| XM_011512435.2:c.*49G>A (CP) | XP_011510737.1:n.*49G>A | |
| XM_017007323.2:c.2443C>T (HPS3) | XP_016862812.1:p.Pro815Ser | |
| XR_001740326.2:n.2543C>T (HPS3) | ||
| XR_001740327.2:n.2543C>T (HPS3) | ||
| XR_001740328.2:n.2543C>T (HPS3) | ||
| XR_427361.3:n.3375G>A (CP) | ||
| XR_924201.3:n.2543C>T (HPS3) | ||
| NM_001308258.2:c.1948C>T (HPS3) | NP_001295187.1:p.Pro650Ser | |
| NM_032383.5:c.2443C>T (HPS3) MANE Select | NP_115759.2:p.Pro815Ser | |
| NR_046371.2:n.2983G>A (CP) |