Linked Data
ClinVar Variation Id:
256039
dbSNP Id:
rs850730
ExAC:
17:42454463 G / C
gnomAD v2:
17-42454463-G-C
gnomAD v3:
17-44377095-G-C
gnomAD v4:
17-44377095-G-C
ERepo:
CA8602787/MONDO:0100326/011
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44377095G>C , CM000679.2:g.44377095G>C | GRCh38 |
| NC_000017.10:g.42454463G>C , CM000679.1:g.42454463G>C | GRCh37 |
| NC_000017.9:g.39809989G>C | NCBI36 |
| NG_008331.1:g.17411C>G , LRG_479:g.17411C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262407.6:c.2188-7C>G MANE Select | ENSP00000262407.5:n.2188-7C>G | |
| ENST00000648408.1:c.1619-7C>G | ||
| ENST00000262407.5:c.2188-7C>G | ENSP00000262407.5:n.2188-7C>G | |
| ENST00000592462.5:n.983-7C>G | ||
| NM_000419.3:c.2188-7C>G , LRG_479t1:c.2188-7C>G | NP_000410.2:n.2188-7C>G | |
| XM_011524749.1:c.2188-7C>G | XP_011523051.1:n.2188-7C>G | |
| XM_011524750.1:c.2188-7C>G | XP_011523052.1:n.2188-7C>G | |
| NM_000419.4:c.2188-7C>G | NP_000410.2:n.2188-7C>G | |
| NM_000419.5:c.2188-7C>G MANE Select | NP_000410.2:n.2188-7C>G |