Linked Data
ClinVar Variation Id:
870784
dbSNP Id:
rs141132016
ExAC:
1:151403194 T / C
gnomAD v2:
1-151403194-T-C
gnomAD v3:
1-151430718-T-C
gnomAD v4:
1-151430718-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.151430718T>C , CM000663.2:g.151430718T>C | GRCh38 |
| NC_000001.10:g.151403194T>C , CM000663.1:g.151403194T>C | GRCh37 |
| NC_000001.9:g.149669818T>C | NCBI36 |
| NG_046601.1:g.33748A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710270.1:c.455A>G | ENSP00000518163.1:p.Asn152Ser | |
| ENST00000392723.6:c.248A>G | ENSP00000376484.1:p.Asn83Ser | |
| ENST00000439756.2:c.407A>G | ENSP00000390156.2:p.Asn136Ser | |
| ENST00000703168.1:c.428A>G | ENSP00000515214.1:p.Asn143Ser | |
| ENST00000703169.1:c.407A>G | ENSP00000515215.1:p.Asn136Ser | |
| ENST00000271715.7:c.407A>G MANE Select | ENSP00000271715.2:p.Asn136Ser | |
| ENST00000271715.6:c.407A>G | ENSP00000271715.2:p.Asn136Ser | |
| ENST00000358476.7:n.276A>G | ||
| ENST00000368863.6:c.284-2305A>G | ENSP00000357856.2:n.284-2305A>G | |
| ENST00000392723.5:c.248A>G | ENSP00000376484.1:p.Asn83Ser | |
| ENST00000409503.5:c.407A>G | ENSP00000386836.1:p.Asn136Ser | |
| ENST00000450842.1:c.248A>G | ENSP00000395332.1:p.Asn83Ser | |
| ENST00000467287.5:n.285A>G | ||
| ENST00000485040.5:n.436A>G | ||
| ENST00000491586.5:c.248A>G | ENSP00000418408.1:p.Asn83Ser | |
| ENST00000531094.5:c.248A>G | ENSP00000431259.1:p.Asn83Ser | |
| ENST00000533351.5:c.407A>G | ENSP00000433637.1:p.Asn136Ser | |
| ENST00000533461.5:c.407A>G | ENSP00000433934.1:p.Asn136Ser | |
| NM_001194937.1:c.407A>G | NP_001181866.1:p.Asn136Ser | |
| NM_001194938.1:c.248A>G | NP_001181867.1:p.Asn83Ser | |
| NM_015100.3:c.407A>G | NP_055915.2:p.Asn136Ser | |
| NM_145796.3:c.284-2305A>G | NP_665739.3:n.284-2305A>G | |
| NM_207171.2:c.248A>G | NP_997054.1:p.Asn83Ser | |
| XM_005244999.1:c.407A>G | XP_005245056.1:p.Asn136Ser | |
| XM_005245000.3:c.407A>G | XP_005245057.1:p.Asn136Ser | |
| XM_005245001.1:c.407A>G | XP_005245058.1:p.Asn136Ser | |
| XM_005245005.1:c.248A>G | XP_005245062.1:p.Asn83Ser | |
| XM_005245006.3:c.248A>G | XP_005245063.1:p.Asn83Ser | |
| XM_011509330.1:c.299A>G | XP_011507632.1:p.Asn100Ser | |
| XM_011509331.1:c.50A>G | XP_011507633.1:p.Asn17Ser | |
| XR_921760.1:n.408A>G | ||
| XM_005244999.3:c.407A>G | XP_005245056.1:p.Asn136Ser | |
| XM_005245000.4:c.407A>G | XP_005245057.1:p.Asn136Ser | |
| XM_005245001.2:c.407A>G | XP_005245058.1:p.Asn136Ser | |
| XM_005245005.2:c.248A>G | XP_005245062.1:p.Asn83Ser | |
| XM_005245006.5:c.248A>G | XP_005245063.1:p.Asn83Ser | |
| XM_017000744.1:c.428A>G | XP_016856233.1:p.Asn143Ser | |
| XM_017000745.2:c.407A>G | XP_016856234.1:p.Asn136Ser | |
| XM_017000746.1:c.407A>G | XP_016856235.1:p.Asn136Ser | |
| XM_017000748.1:c.248A>G | XP_016856237.1:p.Asn83Ser | |
| XM_017000749.1:c.248A>G | XP_016856238.1:p.Asn83Ser | |
| XM_024454305.1:c.428A>G | XP_024310073.1:p.Asn143Ser | |
| XM_024454306.1:c.-1876A>G | XP_024310074.1:n.-1876A>G | |
| XR_002959801.1:n.435A>G | ||
| NM_015100.4:c.407A>G MANE Select | NP_055915.2:p.Asn136Ser | |
| NM_001194937.2:c.407A>G | NP_001181866.1:p.Asn136Ser | |
| NM_001194938.2:c.248A>G | NP_001181867.1:p.Asn83Ser | |
| NM_145796.4:c.284-2305A>G | NP_665739.3:n.284-2305A>G |