Linked Data
ClinVar Variation Id:
163212
dbSNP Id:
rs375679311
ExAC:
18:29116219 A / G
gnomAD v2:
18-29116219-A-G
gnomAD v3:
18-31536256-A-G
gnomAD v4:
18-31536256-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31536256A>G , CM000680.2:g.31536256A>G | GRCh38 |
| NC_000018.9:g.29116219A>G , CM000680.1:g.29116219A>G | GRCh37 |
| NC_000018.8:g.27370217A>G | NCBI36 |
| NG_007072.3:g.43015A>G , LRG_397:g.43015A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261590.13:c.1478A>G MANE Select | ENSP00000261590.8:p.Asn493Ser | |
| ENST00000261590.12:c.1478A>G | ENSP00000261590.8:p.Asn493Ser | |
| NM_001943.3:c.1478A>G , LRG_397t1:c.1478A>G | NP_001934.2:p.Asn493Ser | |
| NM_001943.4:c.1478A>G | NP_001934.2:p.Asn493Ser | |
| XM_024451095.1:c.944A>G | XP_024306863.1:p.Asn315Ser | |
| NM_001943.5:c.1478A>G MANE Select | NP_001934.2:p.Asn493Ser |