Linked Data
ClinVar Variation Id:
218542
dbSNP Id:
rs140666848
ExAC:
4:151791682 T / C
gnomAD v2:
4-151791682-T-C
gnomAD v3:
4-150870530-T-C
gnomAD v4:
4-150870530-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.150870530T>C , CM000666.2:g.150870530T>C | GRCh38 |
| NC_000004.11:g.151791682T>C , CM000666.1:g.151791682T>C | GRCh37 |
| NC_000004.10:g.152011132T>C | NCBI36 |
| NG_032855.1:g.149968A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651695.2:c.2444A>G | ENSP00000498254.2:p.Asn815Ser | |
| ENST00000697129.1:n.771A>G | ||
| ENST00000357115.9:c.2444A>G | ENSP00000349629.3:p.Asn815Ser | |
| ENST00000651035.1:c.2444A>G | ENSP00000498673.1:p.Asn815Ser | |
| ENST00000651695.1:c.158A>G | ENSP00000498254.1:p.Asn53Ser | |
| ENST00000651943.2:c.2444A>G MANE Select | ENSP00000498582.2:p.Asn815Ser | |
| ENST00000357115.7:c.2444A>G | ENSP00000349629.3:p.Asn815Ser | |
| ENST00000507224.5:c.2444A>G | ENSP00000422180.1:p.Asn815Ser | |
| ENST00000510413.5:c.2444A>G | ENSP00000421552.1:p.Asn815Ser | |
| NM_001199282.2:c.2444A>G | NP_001186211.2:p.Asn815Ser | |
| NM_006726.4:c.2444A>G | NP_006717.2:p.Asn815Ser | |
| XM_005263372.2:c.2444A>G | XP_005263429.1:p.Asn815Ser | |
| XM_005263373.1:c.2444A>G | XP_005263430.1:p.Asn815Ser | |
| XM_005263374.2:c.2444A>G | XP_005263431.1:p.Asn815Ser | |
| XM_005263375.2:c.2444A>G | XP_005263432.1:p.Asn815Ser | |
| XM_005263377.2:c.2444A>G | XP_005263434.1:p.Asn815Ser | |
| XM_011532434.1:c.2444A>G | XP_011530736.1:p.Asn815Ser | |
| NM_001364905.1:c.2444A>G MANE Select | NP_001351834.1:p.Asn815Ser | |
| XM_005263372.3:c.2444A>G | XP_005263429.1:p.Asn815Ser | |
| XM_005263373.3:c.2444A>G | XP_005263430.1:p.Asn815Ser | |
| XM_005263374.3:c.2444A>G | XP_005263431.1:p.Asn815Ser | |
| XM_011532434.2:c.2444A>G | XP_011530736.1:p.Asn815Ser | |
| XM_017008872.2:c.2444A>G | XP_016864361.1:p.Asn815Ser | |
| NM_001367550.1:c.2444A>G | NP_001354479.1:p.Asn815Ser |