Linked Data
ClinVar Variation Id:
3008476
ClinVar RCV Id:
RCV003867139
dbSNP Id:
rs557305739
ExAC:
2:233404524 A / G
gnomAD v2:
2-233404524-A-G
gnomAD v3:
2-232539814-A-G
gnomAD v4:
2-232539814-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232539814A>G , CM000664.2:g.232539814A>G | GRCh38 |
| NC_000002.11:g.233404524A>G , CM000664.1:g.233404524A>G | GRCh37 |
| NC_000002.10:g.233112768A>G | NCBI36 |
| NG_012954.1:g.5088A>G | |
| NG_012954.2:g.5123A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651502.1:c.55+12A>G MANE Select | ENSP00000498757.1:n.55+12A>G | |
| ENST00000389492.3:c.55+12A>G | ENSP00000374143.3:n.55+12A>G | |
| ENST00000389494.7:c.55+12A>G | ENSP00000374145.3:n.55+12A>G | |
| ENST00000485094.1:n.76+12A>G | ||
| NM_005199.4:c.55+12A>G | NP_005190.4:n.55+12A>G | |
| NM_005199.5:c.55+12A>G MANE Select | NP_005190.4:n.55+12A>G |