Linked Data
ClinVar Variation Id:
1502826
ClinVar RCV Id:
RCV002022524
dbSNP Id:
rs531216083
gnomAD v3:
4-1814576-A-G
gnomAD v4:
4-1814576-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1814576A>G , CM000666.2:g.1814576A>G | GRCh38 |
| NC_000004.11:g.1816303A>G , CM000666.1:g.1816303A>G | GRCh37 |
| NC_000004.10:g.1786101A>G | NCBI36 |
| NG_013063.1:g.46672T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302787.3:c.2071-3T>C MANE Select | ENSP00000305653.2:n.2071-3T>C | |
| ENST00000302787.2:c.2071-3T>C | ENSP00000305653.2:n.2071-3T>C | |
| NM_012318.2:c.2071-3T>C | NP_036450.1:n.2071-3T>C | |
| XM_005247970.3:c.1156-3T>C | XP_005248027.1:n.1156-3T>C | |
| XM_006713884.1:c.2068-3T>C | XP_006713947.1:n.2068-3T>C | |
| NM_012318.3:c.2071-3T>C MANE Select | NP_036450.1:n.2071-3T>C |