Linked Data
ClinVar Variation Id:
2959825
ClinVar RCV Id:
RCV003812000
dbSNP Id:
rs751408954
ExAC:
3:148880466 C / T
gnomAD v2:
3-148880466-C-T
gnomAD v3:
3-149162679-C-T
gnomAD v4:
3-149162679-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.149162679C>T , CM000665.2:g.149162679C>T | GRCh38 |
| NC_000003.11:g.148880466C>T , CM000665.1:g.148880466C>T | GRCh37 |
| NC_000003.10:g.150363156C>T | NCBI36 |
| NG_009847.1:g.38096C>T | |
| NG_011800.2:g.64367G>A | |
| NG_011800.3:g.64367G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296051.7:c.2293-11C>T (HPS3) MANE Select | ENSP00000296051.2:n.2293-11C>T | |
| ENST00000296051.6:c.2293-11C>T (HPS3) | ENSP00000296051.2:n.2293-11C>T | |
| ENST00000460120.5:c.1798-11C>T (HPS3) | ENSP00000418230.1:n.1798-11C>T | |
| ENST00000460822.1:c.421-11C>T (HPS3) | ENSP00000419824.1:n.421-11C>T | |
| ENST00000479771.5:c.888G>A (CP) | ENSP00000420367.1:n.888G>A | |
| ENST00000481169.5:c.*266G>A (CP) | ENSP00000418773.1:n.*266G>A | |
| NM_001308258.1:c.1798-11C>T (HPS3) | NP_001295187.1:n.1798-11C>T | |
| NM_032383.3:c.2293-11C>T (HPS3) | NP_115759.2:n.2293-11C>T | |
| NM_032383.4:c.2293-11C>T (HPS3) | NP_115759.2:n.2293-11C>T | |
| NR_046371.1:n.3360G>A (CP) | ||
| XM_005247834.3:c.2286-3C>T (HPS3) | XP_005247891.1:n.2286-3C>T | |
| XM_006713499.2:c.*210G>A (CP) | XP_006713562.1:n.*210G>A | |
| XM_006713788.1:c.2293-11C>T (HPS3) | XP_006713851.1:n.2293-11C>T | |
| XM_011512435.1:c.*210G>A (CP) | XP_011510737.1:n.*210G>A | |
| XR_427361.2:n.3578G>A (CP) | ||
| XR_924201.1:n.2408-11C>T (HPS3) | ||
| XM_005247834.4:c.2286-3C>T (HPS3) | XP_005247891.1:n.2286-3C>T | |
| XM_006713499.3:c.*210G>A (CP) | XP_006713562.1:n.*210G>A | |
| XM_011512435.2:c.*210G>A (CP) | XP_011510737.1:n.*210G>A | |
| XM_017007323.2:c.2293-11C>T (HPS3) | XP_016862812.1:n.2293-11C>T | |
| XR_001740326.2:n.2393-11C>T (HPS3) | ||
| XR_001740327.2:n.2393-11C>T (HPS3) | ||
| XR_001740328.2:n.2393-11C>T (HPS3) | ||
| XR_427361.3:n.3536G>A (CP) | ||
| XR_924201.3:n.2393-11C>T (HPS3) | ||
| NM_001308258.2:c.1798-11C>T (HPS3) | NP_001295187.1:n.1798-11C>T | |
| NM_032383.5:c.2293-11C>T (HPS3) MANE Select | NP_115759.2:n.2293-11C>T | |
| NR_046371.2:n.3144G>A (CP) |