Linked Data
ClinVar Variation Id:
1927523
dbSNP Id:
rs905714393
gnomAD v2:
2-73799725-A-G
gnomAD v3:
2-73572598-A-G
gnomAD v4:
2-73572598-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73572598A>G , CM000664.2:g.73572598A>G | GRCh38 |
| NC_000002.11:g.73799725A>G , CM000664.1:g.73799725A>G | GRCh37 |
| NC_000002.10:g.73653233A>G | NCBI36 |
| NG_011690.1:g.191846A>G , LRG_741:g.191846A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.10340A>G | ENSP00000507671.1:p.Asn3447Ser | |
| ENST00000682801.1:c.10340A>G | ENSP00000507862.1:p.Asn3447Ser | |
| ENST00000682859.1:c.10340A>G | ENSP00000508222.1:p.Asn3447Ser | |
| ENST00000683791.1:c.3426A>G | ||
| ENST00000684460.1:c.7621A>G | ||
| ENST00000684548.1:c.10340A>G | ENSP00000507421.1:p.Asn3447Ser | |
| ENST00000684590.1:c.4787A>G | ENSP00000507376.1:p.Asn1596Ser | |
| ENST00000684656.1:c.7666A>G | ||
| ENST00000613296.6:c.10721A>G MANE Select | ENSP00000482968.1:p.Asn3574Ser | |
| ENST00000651057.1:c.875A>G | ENSP00000498504.1:p.Asn292Ser | |
| ENST00000651434.1:c.2077A>G | ||
| ENST00000651750.1:c.109A>G | ||
| ENST00000652487.1:c.1818A>G | ||
| ENST00000423048.5:c.4212A>G | ENSP00000399833.1:n.4212A>G | |
| ENST00000484298.5:c.10595A>G | ENSP00000478155.1:p.Asn3532Ser | |
| ENST00000613296.4:c.10721A>G | ENSP00000482968.1:p.Asn3574Ser | |
| ENST00000614410.4:c.10721A>G | ENSP00000479094.1:p.Asn3574Ser | |
| ENST00000620466.4:n.4524A>G | ||
| NM_015120.4:c.10724A>G , LRG_741t1:c.10724A>G | NP_055935.4:p.Asn3575Ser | |
| NM_001378454.1:c.10721A>G MANE Select | NP_001365383.1:p.Asn3574Ser |