Linked Data
ClinVar Variation Id:
1522814
ClinVar RCV Id:
RCV002036287
dbSNP Id:
rs1052807907
gnomAD v2:
12-8800745-T-C
gnomAD v3:
12-8648149-T-C
gnomAD v4:
12-8648149-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.8648149T>C , CM000674.2:g.8648149T>C | GRCh38 |
| NC_000012.11:g.8800745T>C , CM000674.1:g.8800745T>C | GRCh37 |
| NC_000012.10:g.8692012T>C | NCBI36 |
| NG_041814.1:g.19740A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359478.7:c.464A>G MANE Select | ENSP00000352455.2:p.Asn155Ser | |
| ENST00000359478.6:c.464A>G | ENSP00000352455.2:p.Asn155Ser | |
| ENST00000396549.6:c.434A>G | ENSP00000379798.2:p.Asn145Ser | |
| ENST00000433590.6:c.389A>G | ENSP00000411997.2:p.Asn130Ser | |
| ENST00000535336.5:c.272A>G | ENSP00000438525.1:p.Asn91Ser | |
| ENST00000535411.5:c.433A>G | ||
| ENST00000537009.5:c.*116A>G | ENSP00000439289.1:n.*116A>G | |
| ENST00000538694.5:n.423A>G | ||
| ENST00000540087.5:c.434A>G | ENSP00000440496.1:p.Asn145Ser | |
| ENST00000543369.5:c.398A>G | ENSP00000441492.1:p.Asn133Ser | |
| ENST00000543467.5:c.182A>G | ENSP00000444531.1:p.Asn61Ser | |
| ENST00000544211.5:c.*116A>G | ENSP00000443839.1:n.*116A>G | |
| NM_001297709.1:c.434A>G | NP_001284638.1:p.Asn145Ser | |
| NM_001297710.1:c.398A>G | NP_001284639.1:p.Asn133Ser | |
| NM_001297711.1:c.389A>G | NP_001284640.1:p.Asn130Ser | |
| NM_001297712.1:c.272A>G | NP_001284641.1:p.Asn91Ser | |
| NM_003480.3:c.464A>G | NP_003471.1:p.Asn155Ser | |
| NR_123733.1:n.797A>G | ||
| NR_123734.1:n.767A>G | ||
| NM_003480.4:c.464A>G MANE Select | NP_003471.1:p.Asn155Ser | |
| NM_001297709.2:c.434A>G | NP_001284638.1:p.Asn145Ser | |
| NM_001297710.2:c.398A>G | NP_001284639.1:p.Asn133Ser | |
| NM_001297711.2:c.389A>G | NP_001284640.1:p.Asn130Ser | |
| NM_001297712.2:c.272A>G | NP_001284641.1:p.Asn91Ser | |
| NR_123733.2:n.735A>G | ||
| NR_123734.2:n.705A>G |