Linked Data
ClinVar Variation Id:
2164271
ClinVar RCV Id:
RCV003073563
dbSNP Id:
rs1282133532
gnomAD v2:
2-220147961-A-G
gnomAD v3:
2-219283239-A-G
gnomAD v4:
2-219283239-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219283239A>G , CM000664.2:g.219283239A>G | GRCh38 |
| NC_000002.11:g.220147961A>G , CM000664.1:g.220147961A>G | GRCh37 |
| NC_000002.10:g.219856205A>G | NCBI36 |
| NG_029553.1:g.8922A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684599.1:n.755+4A>G | ||
| ENST00000336576.10:c.548+4A>G MANE Select | ENSP00000338019.5:n.548+4A>G | |
| ENST00000336576.9:c.548+4A>G | ENSP00000338019.5:n.548+4A>G | |
| ENST00000392086.8:c.548+4A>G | ENSP00000375936.4:n.548+4A>G | |
| ENST00000392087.6:c.455+4A>G | ENSP00000375937.2:n.455+4A>G | |
| ENST00000425450.5:c.548+4A>G | ENSP00000414796.1:n.548+4A>G | |
| ENST00000463463.5:n.539+4A>G | ||
| ENST00000472019.5:n.291+4A>G | ||
| ENST00000473750.5:n.335+4A>G | ||
| ENST00000476254.1:n.172+4A>G | ||
| ENST00000477917.5:n.1973A>G | ||
| NM_001039550.1:c.548+4A>G | NP_001034639.1:n.548+4A>G | |
| NM_006736.5:c.548+4A>G | NP_006727.2:n.548+4A>G | |
| NM_001039550.2:c.548+4A>G | NP_001034639.1:n.548+4A>G | |
| NM_006736.6:c.548+4A>G MANE Select | NP_006727.2:n.548+4A>G |