Linked Data
ClinVar Variation Id:
343713
dbSNP Id:
rs543058717
ExAC:
3:148884923 C / T
gnomAD v2:
3-148884923-C-T
gnomAD v3:
3-149167136-C-T
gnomAD v4:
3-149167136-C-T
COSMIC:
COSM3002664
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.149167136C>T , CM000665.2:g.149167136C>T | GRCh38 |
| NC_000003.11:g.148884923C>T , CM000665.1:g.148884923C>T | GRCh37 |
| NC_000003.10:g.150367613C>T | NCBI36 |
| NG_009847.1:g.42553C>T | |
| NG_011800.2:g.59910G>A | |
| NG_011800.3:g.59910G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296051.7:c.2692C>T (HPS3) MANE Select | ENSP00000296051.2:p.Arg898Cys | |
| ENST00000296051.6:c.2692C>T (HPS3) | ENSP00000296051.2:p.Arg898Cys | |
| ENST00000460120.5:c.2197C>T (HPS3) | ENSP00000418230.1:p.Arg733Cys | |
| ENST00000460822.1:c.789C>T (HPS3) | ENSP00000419824.1:p.Val263= | |
| ENST00000479771.5:c.587-1086G>A (CP) | ENSP00000420367.1:n.587-1086G>A | |
| ENST00000481169.5:c.2806-1086G>A (CP) | ENSP00000418773.1:n.2806-1086G>A | |
| NM_001308258.1:c.2197C>T (HPS3) | NP_001295187.1:p.Arg733Cys | |
| NM_032383.3:c.2692C>T (HPS3) | NP_115759.2:p.Arg898Cys | |
| NM_032383.4:c.2692C>T (HPS3) | NP_115759.2:p.Arg898Cys | |
| NR_046371.1:n.3059-1086G>A (CP) | ||
| XM_006713499.2:c.3182-1086G>A (CP) | XP_006713562.1:n.3182-1086G>A | |
| XM_006713788.1:c.2692C>T (HPS3) | XP_006713851.1:p.Arg898Cys | |
| XM_011512435.1:c.3194-1086G>A (CP) | XP_011510737.1:n.3194-1086G>A | |
| XR_427361.2:n.3277-1086G>A (CP) | ||
| XR_924201.1:n.2776C>T (HPS3) | ||
| XM_006713499.3:c.3182-1086G>A (CP) | XP_006713562.1:n.3182-1086G>A | |
| XM_011512435.2:c.3194-1086G>A (CP) | XP_011510737.1:n.3194-1086G>A | |
| XM_017007323.2:c.2692C>T (HPS3) | XP_016862812.1:p.Arg898Cys | |
| XR_001740326.2:n.2792C>T (HPS3) | ||
| XR_001740327.2:n.2792C>T (HPS3) | ||
| XR_001740328.2:n.2761C>T (HPS3) | ||
| XR_427361.3:n.3235-1086G>A (CP) | ||
| XR_924201.3:n.2761C>T (HPS3) | ||
| NM_001308258.2:c.2197C>T (HPS3) | NP_001295187.1:p.Arg733Cys | |
| NM_032383.5:c.2692C>T (HPS3) MANE Select | NP_115759.2:p.Arg898Cys | |
| NR_046371.2:n.2843-1086G>A (CP) |