Linked Data
ClinVar Variation Id:
948950
dbSNP Id:
rs1159227189
gnomAD v2:
14-65543255-C-G
gnomAD v4:
14-65076537-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.65076537C>G , CM000676.2:g.65076537C>G | GRCh38 |
| NC_000014.8:g.65543255C>G , CM000676.1:g.65543255C>G | GRCh37 |
| NC_000014.7:g.64613008C>G | NCBI36 |
| NG_029830.1:g.30973G>C , LRG_530:g.30973G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556892.6:c.203G>C | ENSP00000452206.2:p.Ser68Thr | |
| ENST00000556979.6:c.*875G>C | ENSP00000452378.1:n.*875G>C | |
| ENST00000358664.9:c.422G>C MANE Select | ENSP00000351490.4:p.Ser141Thr | |
| ENST00000651648.1:c.145-6168G>C | ENSP00000498863.1:n.145-6168G>C | |
| ENST00000284165.10:c.*1266G>C | ENSP00000284165.6:n.*1266G>C | |
| ENST00000341653.6:c.171+17171G>C | ENSP00000342482.2:n.171+17171G>C | |
| ENST00000358402.8:c.395G>C | ENSP00000351175.4:p.Ser132Thr | |
| ENST00000358664.8:c.422G>C | ENSP00000351490.4:p.Ser141Thr | |
| ENST00000394606.6:c.*195G>C | ENSP00000378104.2:n.*195G>C | |
| ENST00000553928.5:c.*211G>C | ENSP00000451907.1:n.*211G>C | |
| ENST00000555419.5:c.314G>C | ENSP00000452405.1:p.Ser105Thr | |
| ENST00000555932.5:c.163G>C | ENSP00000450763.1:p.Ala55Pro | |
| ENST00000557277.5:c.233G>C | ENSP00000450955.1:p.Ser78Thr | |
| ENST00000618858.4:c.*211G>C | ENSP00000480127.1:n.*211G>C | |
| NM_001271069.1:c.144+17171G>C | NP_001257998.1:n.144+17171G>C | |
| NM_002382.4:c.422G>C | NP_002373.3:p.Ser141Thr | |
| NM_145112.2:c.395G>C | NP_660087.1:p.Ser132Thr | |
| NM_145113.2:c.*211G>C | NP_660088.1:n.*211G>C | |
| NM_197957.3:c.171+17171G>C | NP_932061.1:n.171+17171G>C | |
| NR_073137.1:n.546G>C | ||
| XR_429315.2:n.709G>C | ||
| NM_001320415.1:c.233G>C | NP_001307344.1:p.Ser78Thr | |
| XM_017021312.2:c.233G>C | XP_016876801.1:p.Ser78Thr | |
| XM_017021313.1:c.233G>C | XP_016876802.1:p.Ser78Thr | |
| XR_001750326.2:n.767G>C | ||
| XR_001750327.2:n.686G>C | ||
| XR_002957553.1:n.1200G>C | ||
| XR_943450.3:n.790G>C | ||
| XR_943451.3:n.806G>C | ||
| XR_943452.3:n.751G>C | ||
| NM_001320415.2:c.233G>C | NP_001307344.1:p.Ser78Thr | |
| NM_002382.5:c.422G>C MANE Select | NP_002373.3:p.Ser141Thr | |
| NM_145112.3:c.395G>C | NP_660087.1:p.Ser132Thr | |
| NM_145113.3:c.*211G>C | NP_660088.1:n.*211G>C | |
| NM_001271069.2:c.144+17171G>C | NP_001257998.1:n.144+17171G>C | |
| NM_197957.4:c.171+17171G>C | NP_932061.1:n.171+17171G>C |