Linked Data
ClinVar Variation Id:
1129502
ClinVar RCV Id:
RCV001462687
dbSNP Id:
rs139697700
ExAC:
3:148881709 T / C
gnomAD v2:
3-148881709-T-C
gnomAD v3:
3-149163922-T-C
gnomAD v4:
3-149163922-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.149163922T>C , CM000665.2:g.149163922T>C | GRCh38 |
| NC_000003.11:g.148881709T>C , CM000665.1:g.148881709T>C | GRCh37 |
| NC_000003.10:g.150364399T>C | NCBI36 |
| NG_009847.1:g.39339T>C | |
| NG_011800.2:g.63124A>G | |
| NG_011800.3:g.63124A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296051.7:c.2562T>C (HPS3) MANE Select | ENSP00000296051.2:p.Asn854= | |
| ENST00000296051.6:c.2562T>C (HPS3) | ENSP00000296051.2:p.Asn854= | |
| ENST00000460120.5:c.2067T>C (HPS3) | ENSP00000418230.1:p.Asn689= | |
| ENST00000460822.1:c.690T>C (HPS3) | ENSP00000419824.1:p.Asn230= | |
| ENST00000479771.5:c.692-1047A>G (CP) | ENSP00000420367.1:n.692-1047A>G | |
| ENST00000481169.5:c.*70-1047A>G (CP) | ENSP00000418773.1:n.*70-1047A>G | |
| NM_001308258.1:c.2067T>C (HPS3) | NP_001295187.1:p.Asn689= | |
| NM_032383.3:c.2562T>C (HPS3) | NP_115759.2:p.Asn854= | |
| NM_032383.4:c.2562T>C (HPS3) | NP_115759.2:p.Asn854= | |
| NR_046371.1:n.3164-1047A>G (CP) | ||
| XM_006713499.2:c.*14-1047A>G (CP) | XP_006713562.1:n.*14-1047A>G | |
| XM_006713788.1:c.2562T>C (HPS3) | XP_006713851.1:p.Asn854= | |
| XM_011512435.1:c.*14-1047A>G (CP) | XP_011510737.1:n.*14-1047A>G | |
| XR_427361.2:n.3382-1047A>G (CP) | ||
| XR_924201.1:n.2677T>C (HPS3) | ||
| XM_006713499.3:c.*14-1047A>G (CP) | XP_006713562.1:n.*14-1047A>G | |
| XM_011512435.2:c.*14-1047A>G (CP) | XP_011510737.1:n.*14-1047A>G | |
| XM_017007323.2:c.2562T>C (HPS3) | XP_016862812.1:p.Asn854= | |
| XR_001740326.2:n.2662T>C (HPS3) | ||
| XR_001740327.2:n.2662T>C (HPS3) | ||
| XR_001740328.2:n.2662T>C (HPS3) | ||
| XR_427361.3:n.3340-1047A>G (CP) | ||
| XR_924201.3:n.2662T>C (HPS3) | ||
| NM_001308258.2:c.2067T>C (HPS3) | NP_001295187.1:p.Asn689= | |
| NM_032383.5:c.2562T>C (HPS3) MANE Select | NP_115759.2:p.Asn854= | |
| NR_046371.2:n.2948-1047A>G (CP) |