Linked Data
ClinVar Variation Id:
2911486
ClinVar RCV Id:
RCV003612297
dbSNP Id:
rs1396186034
gnomAD v2:
20-3893186-T-C
gnomAD v4:
20-3912539-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3912539T>C , CM000682.2:g.3912539T>C | GRCh38 |
| NC_000020.10:g.3893186T>C , CM000682.1:g.3893186T>C | GRCh37 |
| NC_000020.9:g.3841186T>C | NCBI36 |
| NG_008131.3:g.28701T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000610179.7:c.987T>C MANE Select | ENSP00000477429.2:p.Ser329= | |
| ENST00000316562.9:c.1317T>C | ENSP00000313377.4:p.Ser439= | |
| ENST00000336066.8:c.*328T>C | ENSP00000477229.2:n.*328T>C | |
| ENST00000610179.6:c.987T>C | ENSP00000477429.2:p.Ser329= | |
| ENST00000643504.2:c.*617T>C | ENSP00000495157.2:n.*617T>C | |
| ENST00000646394.1:c.814T>C | ||
| ENST00000316562.8:c.1317T>C | ENSP00000313377.4:p.Ser439= | |
| ENST00000336066.7:c.*328T>C | ENSP00000477229.1:n.*328T>C | |
| ENST00000464452.1:n.552T>C | ||
| ENST00000495692.5:c.9T>C | ENSP00000476745.1:p.Ser3= | |
| ENST00000497424.5:c.444T>C | ENSP00000417609.1:p.Ser148= | |
| ENST00000610179.5:c.948T>C | ENSP00000477429.1:p.Ser316= | |
| ENST00000621507.1:c.444T>C | ENSP00000481523.1:p.Ser148= | |
| NM_024960.4:c.444T>C | NP_079236.3:p.Ser148= | |
| NM_153638.2:c.1317T>C | NP_705902.2:p.Ser439= | |
| NM_153640.2:c.444T>C | NP_705904.1:p.Ser148= | |
| XM_005260835.2:c.702T>C | XP_005260892.1:p.Ser234= | |
| XM_005260836.3:c.444T>C | XP_005260893.3:p.Ser148= | |
| XM_006723631.1:c.444T>C | XP_006723694.1:p.Ser148= | |
| XM_011529364.1:c.1235+1709T>C | XP_011527666.1:n.1235+1709T>C | |
| NM_001324191.1:c.444T>C | NP_001311120.1:p.Ser148= | |
| NM_001324193.1:c.9T>C | NP_001311122.1:p.Ser3= | |
| NM_024960.5:c.444T>C | NP_079236.3:p.Ser148= | |
| NM_153638.3:c.1317T>C | NP_705902.2:p.Ser439= | |
| NM_153640.3:c.444T>C | NP_705904.1:p.Ser148= | |
| NR_136715.1:n.1341T>C | ||
| XM_005260835.3:c.702T>C | XP_005260892.1:p.Ser234= | |
| XM_005260836.4:c.444T>C | XP_005260893.3:p.Ser148= | |
| XM_011529364.3:c.1235+1709T>C | XP_011527666.1:n.1235+1709T>C | |
| XM_017028077.2:c.9T>C | XP_016883566.1:p.Ser3= | |
| XM_017028078.2:c.9T>C | XP_016883567.1:p.Ser3= | |
| XM_017028079.2:c.9T>C | XP_016883568.1:p.Ser3= | |
| XM_024452002.1:c.9T>C | XP_024307770.1:p.Ser3= | |
| XR_002958533.1:n.2105T>C | ||
| NM_001324191.2:c.444T>C | NP_001311120.1:p.Ser148= | |
| NM_001324193.2:c.9T>C | NP_001311122.1:p.Ser3= | |
| NM_024960.6:c.444T>C | NP_079236.3:p.Ser148= | |
| NR_136715.2:n.888T>C | ||
| NM_001386393.1:c.987T>C MANE Select | NP_001373322.1:p.Ser329= | |
| NM_153638.4:c.1317T>C | NP_705902.2:p.Ser439= | |
| NM_153640.4:c.444T>C | NP_705904.1:p.Ser148= |