Linked Data
ClinVar Variation Id:
214218
dbSNP Id:
rs745619253
ExAC:
4:84185368 T / C
gnomAD v2:
4-84185368-T-C
gnomAD v3:
4-83264215-T-C
gnomAD v4:
4-83264215-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.83264215T>C , CM000666.2:g.83264215T>C | GRCh38 |
| NC_000004.11:g.84185368T>C , CM000666.1:g.84185368T>C | GRCh37 |
| NC_000004.10:g.84404392T>C | NCBI36 |
| NG_015825.1:g.25700A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311469.9:c.1250A>G | ENSP00000310873.4:p.Asn417Ser | |
| ENST00000647002.2:c.1100A>G MANE Select | ENSP00000495761.2:p.Asn367Ser | |
| ENST00000311469.8:c.1250A>G | ENSP00000310873.4:p.Asn417Ser | |
| ENST00000503391.5:c.*176-1560A>G | ENSP00000426242.1:n.*176-1560A>G | |
| ENST00000503915.5:c.910A>G | ENSP00000427146.1:n.910A>G | |
| NM_015697.7:c.1250A>G | NP_056512.5:p.Asn417Ser | |
| XM_011531855.1:c.1102-1560A>G | XP_011530157.1:n.1102-1560A>G | |
| XM_011531856.1:c.1102-1560A>G | XP_011530158.1:n.1102-1560A>G | |
| XM_011531857.1:c.1102-1560A>G | XP_011530159.1:n.1102-1560A>G | |
| XM_011531858.1:c.1102-1560A>G | XP_011530160.1:n.1102-1560A>G | |
| XM_011531859.1:c.1102-1560A>G | XP_011530161.1:n.1102-1560A>G | |
| XM_011531860.1:c.1102-1560A>G | XP_011530162.1:n.1102-1560A>G | |
| XM_011531861.1:c.1102-1560A>G | XP_011530163.1:n.1102-1560A>G | |
| XM_011531862.1:c.1102-1560A>G | XP_011530164.1:n.1102-1560A>G | |
| XM_011531863.1:c.1102-1560A>G | XP_011530165.1:n.1102-1560A>G | |
| XM_011531864.1:c.1102-1560A>G | XP_011530166.1:n.1102-1560A>G | |
| XM_011531865.1:c.1102-1560A>G | XP_011530167.1:n.1102-1560A>G | |
| XM_011531866.1:c.1102-1560A>G | XP_011530168.1:n.1102-1560A>G | |
| XM_011531867.1:c.748-1560A>G | XP_011530169.1:n.748-1560A>G | |
| XR_427543.2:n.1528A>G | ||
| NM_001358921.1:c.1100A>G | NP_001345850.1:p.Asn367Ser | |
| NM_015697.8:c.1250A>G | NP_056512.5:p.Asn417Ser | |
| XM_011531855.3:c.952-1560A>G | XP_011530157.2:n.952-1560A>G | |
| XM_011531857.3:c.952-1560A>G | XP_011530159.2:n.952-1560A>G | |
| XM_011531859.3:c.952-1560A>G | XP_011530161.2:n.952-1560A>G | |
| XM_011531860.3:c.952-1560A>G | XP_011530162.2:n.952-1560A>G | |
| XM_011531862.3:c.952-1560A>G | XP_011530164.2:n.952-1560A>G | |
| XM_011531863.3:c.952-1560A>G | XP_011530165.2:n.952-1560A>G | |
| XM_011531866.3:c.952-1560A>G | XP_011530168.2:n.952-1560A>G | |
| XM_011531867.3:c.748-1560A>G | XP_011530169.1:n.748-1560A>G | |
| XM_017008031.2:c.896A>G | XP_016863520.1:p.Asn299Ser | |
| XM_017008032.2:c.361-1560A>G | XP_016863521.1:n.361-1560A>G | |
| XR_001741203.2:n.983-1560A>G | ||
| XR_001741204.2:n.1126A>G | ||
| XR_427543.4:n.1250A>G | ||
| XR_938721.3:n.1245A>G | ||
| NM_001358921.2:c.1100A>G MANE Select | NP_001345850.1:p.Asn367Ser | |
| NM_015697.9:c.1250A>G | NP_056512.5:p.Asn417Ser |