Linked Data
ClinVar Variation Id:
91042
ClinVar RCV Id:
RCV000129755
RCV000202259
RCV000490569
RCV000524398
RCV001355980
RCV001646998
RCV003149752
dbSNP Id:
rs55859129
ExAC:
2:47710049 T / C
gnomAD v2:
2-47710049-T-C
gnomAD v3:
2-47482910-T-C
gnomAD v4:
2-47482910-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47482910T>C , CM000664.2:g.47482910T>C | GRCh38 |
| NC_000002.11:g.47710049T>C , CM000664.1:g.47710049T>C | GRCh37 |
| NC_000002.10:g.47563553T>C | NCBI36 |
| NG_007110.2:g.84787T>C , LRG_218:g.84787T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644900.2:c.2634+2039T>C | ENSP00000495641.2:n.2634+2039T>C | |
| ENST00000233146.7:c.2766T>C MANE Select | ENSP00000233146.2:p.Phe922= | |
| ENST00000543555.6:c.2568T>C | ENSP00000442697.1:p.Phe856= | |
| ENST00000644092.1:c.*934+2039T>C | ENSP00000496351.1:n.*934+2039T>C | |
| ENST00000644900.1:c.487+2039T>C | ||
| ENST00000645339.1:c.2634+2039T>C | ENSP00000496441.1:n.2634+2039T>C | |
| ENST00000645506.1:c.2634+2039T>C | ENSP00000495455.1:n.2634+2039T>C | |
| ENST00000646415.1:c.2634+2039T>C | ENSP00000495543.1:n.2634+2039T>C | |
| ENST00000233146.6:c.2766T>C | ENSP00000233146.2:p.Phe922= | |
| ENST00000406134.5:c.2634+2039T>C | ENSP00000384199.1:n.2634+2039T>C | |
| ENST00000461394.5:n.75+2039T>C | ||
| ENST00000543555.5:c.2568T>C | ENSP00000442697.1:p.Phe856= | |
| ENST00000610696.4:c.*1162T>C | ENSP00000483159.1:n.*1162T>C | |
| ENST00000613514.4:c.*1306T>C | ENSP00000484137.1:n.*1306T>C | |
| ENST00000617333.3:c.*1532T>C | ENSP00000482468.1:n.*1532T>C | |
| ENST00000617938.4:c.*1738T>C | ENSP00000481158.1:n.*1738T>C | |
| ENST00000621359.2:c.*332T>C | ENSP00000481416.1:n.*332T>C | |
| NM_000251.2:c.2766T>C , LRG_218t1:c.2766T>C | NP_000242.1:p.Phe922= | |
| NM_001258281.1:c.2568T>C | NP_001245210.1:p.Phe856= | |
| XM_005264332.2:c.2634+2039T>C | XP_005264389.2:n.2634+2039T>C | |
| XM_011532867.1:c.2634+2039T>C | XP_011531169.1:n.2634+2039T>C | |
| XR_939685.1:n.2706+2039T>C | ||
| XM_005264332.4:c.2634+2039T>C | XP_005264389.2:n.2634+2039T>C | |
| XM_011532867.2:c.2634+2039T>C | XP_011531169.1:n.2634+2039T>C | |
| XR_001738747.2:n.2696+2039T>C | ||
| XR_939685.2:n.2696+2039T>C | ||
| NM_000251.3:c.2766T>C MANE Select | NP_000242.1:p.Phe922= |