Linked Data
ClinVar Variation Id:
2935456
ClinVar RCV Id:
RCV003791110
dbSNP Id:
rs761511208
ExAC:
2:32449717 A / G
gnomAD v2:
2-32449717-A-G
gnomAD v3:
2-32224648-A-G
gnomAD v4:
2-32224648-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.32224648A>G , CM000664.2:g.32224648A>G | GRCh38 |
| NC_000002.11:g.32449717A>G , CM000664.1:g.32449717A>G | GRCh37 |
| NC_000002.10:g.32303221A>G | NCBI36 |
| NG_041780.1:g.46096T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000652197.2:c.593T>C | ENSP00000498301.2:p.Leu198Ser | |
| ENST00000402280.6:c.2900T>C MANE Select | ENSP00000385428.1:p.Leu967Ser | |
| ENST00000404025.3:c.*606T>C | ENSP00000385090.3:n.*606T>C | |
| ENST00000652197.1:c.*630T>C | ENSP00000498301.1:n.*630T>C | |
| ENST00000342905.10:c.905T>C | ENSP00000339666.6:p.Leu302Ser | |
| ENST00000360906.9:c.2900T>C | ENSP00000354159.5:p.Leu967Ser | |
| ENST00000402280.5:c.2900T>C | ENSP00000385428.1:p.Leu967Ser | |
| ENST00000404025.2:c.2900T>C | ENSP00000385090.2:p.Leu967Ser | |
| NM_001199138.1:c.2900T>C | NP_001186067.1:p.Leu967Ser | |
| NM_001199139.1:c.2900T>C | NP_001186068.1:p.Leu967Ser | |
| NM_001302504.1:c.905T>C | NP_001289433.1:p.Leu302Ser | |
| NM_021209.4:c.2900T>C | NP_067032.3:p.Leu967Ser | |
| NM_001199138.2:c.2900T>C MANE Select | NP_001186067.1:p.Leu967Ser |