Linked Data
ClinVar Variation Id:
507388
dbSNP Id:
rs780688953
ExAC:
20:32000595 G / C
gnomAD v2:
20-32000595-G-C
gnomAD v3:
20-33412789-G-C
gnomAD v4:
20-33412789-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.33412789G>C , CM000682.2:g.33412789G>C | GRCh38 |
| NC_000020.10:g.32000595G>C , CM000682.1:g.32000595G>C | GRCh37 |
| NC_000020.9:g.31464256G>C | NCBI36 |
| NG_011622.1:g.36104C>G , LRG_332:g.36104C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217381.3:c.702-7C>G MANE Select | ENSP00000217381.2:n.702-7C>G | |
| ENST00000217381.2:c.702-7C>G | ENSP00000217381.2:n.702-7C>G | |
| NM_003098.2:c.702-7C>G , LRG_332t1:c.702-7C>G | NP_003089.1:n.702-7C>G | |
| XM_005260517.1:c.702-7C>G | XP_005260574.1:n.702-7C>G | |
| XM_011529007.1:c.702-7C>G | XP_011527309.1:n.702-7C>G | |
| XM_011529008.1:c.702-7C>G | XP_011527310.1:n.702-7C>G | |
| XR_936612.1:n.935-7C>G | ||
| XM_024451971.1:c.375-7C>G | XP_024307739.1:n.375-7C>G | |
| NM_003098.3:c.702-7C>G MANE Select | NP_003089.1:n.702-7C>G |