Linked Data
ClinVar Variation Id:
538692
ClinVar RCV Id:
RCV000648112
dbSNP Id:
rs372665115
ExAC:
17:62006690 G / C
gnomAD v2:
17-62006690-G-C
gnomAD v3:
17-63929330-G-C
gnomAD v4:
17-63929330-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63929330G>C , CM000679.2:g.63929330G>C | GRCh38 |
| NC_000017.10:g.62006690G>C , CM000679.1:g.62006690G>C | GRCh37 |
| NC_000017.9:g.59360422G>C | NCBI36 |
| NG_007368.1:g.8015C>G , LRG_43:g.8015C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698624.1:n.589-6C>G | ||
| ENST00000006750.8:c.592-6C>G MANE Select | ENSP00000006750.4:n.592-6C>G | |
| ENST00000647774.1:c.213-6C>G | ||
| ENST00000006750.7:c.592-6C>G | ENSP00000006750.3:n.592-6C>G | |
| ENST00000349817.2:c.280-6C>G | ENSP00000245862.2:n.280-6C>G | |
| ENST00000392795.7:c.595-6C>G | ENSP00000376544.3:n.595-6C>G | |
| ENST00000559358.1:n.603-6C>G | ||
| NM_000626.2:c.592-6C>G | NP_000617.1:n.592-6C>G | |
| NM_001039933.1:c.595-6C>G , LRG_43t1:c.595-6C>G | NP_001035022.1:n.595-6C>G | |
| NM_021602.2:c.280-6C>G | NP_067613.1:n.280-6C>G | |
| XM_005257858.3:c.283-6C>G | XP_005257915.1:n.283-6C>G | |
| NM_000626.3:c.592-6C>G | NP_000617.1:n.592-6C>G | |
| NM_001039933.2:c.595-6C>G | NP_001035022.1:n.595-6C>G | |
| NM_001329050.1:c.283-6C>G | NP_001315979.1:n.283-6C>G | |
| NM_021602.3:c.280-6C>G | NP_067613.1:n.280-6C>G | |
| NM_000626.4:c.592-6C>G MANE Select | NP_000617.1:n.592-6C>G | |
| NM_001039933.3:c.595-6C>G | NP_001035022.1:n.595-6C>G | |
| NM_001329050.2:c.283-6C>G | NP_001315979.1:n.283-6C>G | |
| NM_021602.4:c.280-6C>G | NP_067613.1:n.280-6C>G |