Linked Data
ClinVar Variation Id:
127693
ClinVar RCV Id:
RCV000115588
RCV000121909
RCV000410224
RCV000205424
RCV002251985
RCV003987363
RCV000589727
RCV004542818
RCV002477278
dbSNP Id:
rs143335584
ExAC:
10:89720731 T / G
gnomAD v2:
10-89720731-T-G
gnomAD v3:
10-87960974-T-G
gnomAD v4:
10-87960974-T-G
ERepo:
CA000618/MONDO:0017623/003
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87960974T>G , CM000672.2:g.87960974T>G | GRCh38 |
| NC_000010.10:g.89720731T>G , CM000672.1:g.89720731T>G | GRCh37 |
| NC_000010.9:g.89710711T>G | NCBI36 |
| NG_007466.2:g.102536T>G , LRG_311:g.102536T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.975T>G | ENSP00000514759.2:p.Ser325Arg | |
| ENST00000710265.1:c.882T>G | ENSP00000518161.1:p.Ser294Arg | |
| ENST00000472832.3:c.882T>G | ENSP00000483066.2:p.Ser294Arg | |
| ENST00000688158.2:n.1617T>G | ||
| ENST00000688922.2:c.*712T>G | ENSP00000508742.2:n.*712T>G | |
| ENST00000700021.1:c.837T>G | ENSP00000514757.1:p.Ser279Arg | |
| ENST00000700022.1:c.*221T>G | ENSP00000514758.1:n.*221T>G | |
| ENST00000700023.1:n.2040T>G | ||
| ENST00000700024.1:n.2274T>G | ||
| ENST00000700025.1:n.1651T>G | ||
| ENST00000700026.1:n.519T>G | ||
| ENST00000706954.1:c.882T>G | ENSP00000516674.1:p.Ser294Arg | |
| ENST00000706955.1:c.*917T>G | ENSP00000516675.1:n.*917T>G | |
| ENST00000686459.1:c.*468T>G | ENSP00000508909.1:n.*468T>G | |
| ENST00000688158.1:c.*993T>G | ENSP00000509254.1:n.*993T>G | |
| ENST00000688308.1:c.882T>G | ENSP00000508752.1:p.Ser294Arg | |
| ENST00000688922.1:c.803T>G | ||
| ENST00000693560.1:c.1401T>G | ENSP00000509861.1:p.Ser467Arg | |
| ENST00000371953.8:c.882T>G MANE Select | ENSP00000361021.3:p.Ser294Arg | |
| ENST00000371953.7:c.882T>G | ENSP00000361021.3:p.Ser294Arg | |
| ENST00000472832.2:c.309T>G | ENSP00000483066.1:p.Ser103Arg | |
| NM_000314.5:c.882T>G | NP_000305.3:p.Ser294Arg | |
| NM_000314.6:c.882T>G | NP_000305.3:p.Ser294Arg | |
| NM_001304717.2:c.1401T>G | NP_001291646.2:p.Ser467Arg | |
| NM_001304718.1:c.291T>G | NP_001291647.1:p.Ser97Arg | |
| XM_006717926.2:c.837T>G | XP_006717989.1:p.Ser279Arg | |
| XM_011539981.1:c.882T>G | XP_011538283.1:p.Ser294Arg | |
| XM_011539982.1:c.786T>G | XP_011538284.1:p.Ser262Arg | |
| XR_945791.1:n.1452T>G | ||
| NM_000314.7:c.882T>G | NP_000305.3:p.Ser294Arg | |
| NM_001304717.5:c.1401T>G | NP_001291646.4:p.Ser467Arg | |
| NM_001304718.2:c.291T>G | NP_001291647.1:p.Ser97Arg | |
| NM_000314.8:c.882T>G MANE Select | NP_000305.3:p.Ser294Arg |