Linked Data
ClinVar Variation Id:
2907715
ClinVar RCV Id:
RCV003636768
dbSNP Id:
rs377213567
ExAC:
1:235969994 A / G
gnomAD v2:
1-235969994-A-G
gnomAD v4:
1-235806694-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.235806694A>G , CM000663.2:g.235806694A>G | GRCh38 |
| NC_000001.10:g.235969994A>G , CM000663.1:g.235969994A>G | GRCh37 |
| NC_000001.9:g.234036617A>G | NCBI36 |
| NG_007397.1:g.81947T>C , LRG_143:g.81947T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697178.1:c.2442T>C | ENSP00000513163.1:p.Ser814= | |
| ENST00000697242.1:c.1845T>C | ENSP00000513207.1:p.Ser615= | |
| ENST00000389793.7:c.2442T>C MANE Select | ENSP00000374443.2:p.Ser814= | |
| ENST00000389793.6:c.2442T>C | ENSP00000374443.2:p.Ser814= | |
| ENST00000389794.7:c.2442T>C | ENSP00000374444.4:p.Ser814= | |
| ENST00000465349.5:n.2993T>C | ||
| ENST00000489585.5:n.2993T>C | ||
| NM_000081.3:c.2442T>C , LRG_143t1:c.2442T>C | NP_000072.2:p.Ser814= | |
| NM_001301365.1:c.2442T>C , LRG_143t2:c.2442T>C | NP_001288294.1:p.Ser814= | |
| XM_011544031.1:c.2442T>C | XP_011542333.1:p.Ser814= | |
| XM_011544032.1:c.2442T>C | XP_011542334.1:p.Ser814= | |
| XM_011544033.1:c.2442T>C | XP_011542335.1:p.Ser814= | |
| XM_011544034.1:c.2442T>C | XP_011542336.1:p.Ser814= | |
| XM_011544035.1:c.2442T>C | XP_011542337.1:p.Ser814= | |
| XM_011544036.1:c.105T>C | XP_011542338.1:p.Ser35= | |
| XM_011544037.1:c.2442T>C | XP_011542339.1:p.Ser814= | |
| XM_011544038.1:c.2442T>C | XP_011542340.1:p.Ser814= | |
| XM_011544039.1:c.2442T>C | XP_011542341.1:p.Ser814= | |
| XM_011544040.1:c.2442T>C | XP_011542342.1:p.Ser814= | |
| XM_011544033.2:c.2442T>C | XP_011542335.1:p.Ser814= | |
| XM_011544035.2:c.2442T>C | XP_011542337.1:p.Ser814= | |
| XM_011544036.2:c.105T>C | XP_011542338.1:p.Ser35= | |
| XM_011544037.2:c.2442T>C | XP_011542339.1:p.Ser814= | |
| XM_011544039.2:c.2442T>C | XP_011542341.1:p.Ser814= | |
| XM_017000150.1:c.2442T>C | XP_016855639.1:p.Ser814= | |
| XM_017000151.1:c.2442T>C | XP_016855640.1:p.Ser814= | |
| XR_001736946.2:n.2624T>C | ||
| XR_001736947.1:n.2624T>C | ||
| XR_001736948.1:n.2624T>C | ||
| XR_002959252.1:n.2624T>C | ||
| NM_000081.4:c.2442T>C MANE Select | NP_000072.2:p.Ser814= |