Linked Data
ClinVar Variation Id:
220530
ClinVar RCV Id:
RCV000205464
RCV000412172
RCV000411008
RCV000679731
RCV001015653
RCV003320137
RCV003462382
dbSNP Id:
rs34617196
ExAC:
10:43615063 A / C
gnomAD v2:
10-43615063-A-C
gnomAD v3:
10-43119615-A-C
gnomAD v4:
10-43119615-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43119615A>C , CM000672.2:g.43119615A>C | GRCh38 |
| NC_000010.10:g.43615063A>C , CM000672.1:g.43615063A>C | GRCh37 |
| NC_000010.9:g.42935069A>C | NCBI36 |
| NG_007489.1:g.47547A>C , LRG_518:g.47547A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.2081A>C | ENSP00000480088.2:p.Tyr694Ser | |
| ENST00000683007.1:n.2051A>C | ||
| ENST00000683872.1:n.2042A>C | ||
| ENST00000340058.6:c.2477A>C | ENSP00000344798.4:p.Tyr826Ser | |
| ENST00000355710.8:c.2477A>C MANE Select | ENSP00000347942.3:p.Tyr826Ser | |
| ENST00000671844.1:c.*1071A>C | ENSP00000500541.1:n.*1071A>C | |
| ENST00000672389.1:c.*1071A>C | ENSP00000500252.1:n.*1071A>C | |
| ENST00000340058.5:c.2477A>C | ENSP00000344798.4:p.Tyr826Ser | |
| ENST00000355710.7:c.2477A>C | ENSP00000347942.3:p.Tyr826Ser | |
| ENST00000615310.4:c.1290-87A>C | ENSP00000480088.1:n.1290-87A>C | |
| NM_020630.4:c.2477A>C , LRG_518t2:c.2477A>C | NP_065681.1:p.Tyr826Ser | |
| NM_020975.4:c.2477A>C , LRG_518t1:c.2477A>C | NP_066124.1:p.Tyr826Ser | |
| XM_011540027.1:c.2477A>C | XP_011538329.1:p.Tyr826Ser | |
| NM_001355216.1:c.1715A>C | NP_001342145.1:p.Tyr572Ser | |
| NM_020630.5:c.2477A>C | NP_065681.1:p.Tyr826Ser | |
| NM_020975.5:c.2477A>C | NP_066124.1:p.Tyr826Ser | |
| NM_020975.6:c.2477A>C MANE Select | NP_066124.1:p.Tyr826Ser | |
| NM_020630.6:c.2477A>C | NP_065681.1:p.Tyr826Ser |