Linked Data
ClinVar Variation Id:
1518359
ClinVar RCV Id:
RCV002021686
dbSNP Id:
rs760743544
ExAC:
2:112754930 C / T
gnomAD v2:
2-112754930-C-T
gnomAD v3:
2-111997353-C-T
gnomAD v4:
2-111997353-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.111997353C>T , CM000664.2:g.111997353C>T | GRCh38 |
| NC_000002.11:g.112754930C>T , CM000664.1:g.112754930C>T | GRCh37 |
| NC_000002.10:g.112471401C>T | NCBI36 |
| NG_011607.1:g.103740C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295408.9:c.1481C>T MANE Select | ENSP00000295408.4:p.Pro494Leu | |
| ENST00000295408.8:c.1481C>T | ENSP00000295408.4:p.Pro494Leu | |
| ENST00000409780.5:c.953C>T | ENSP00000387277.1:p.Pro318Leu | |
| ENST00000421804.6:c.1481C>T | ENSP00000389152.2:p.Pro494Leu | |
| ENST00000439966.5:c.*954C>T | ENSP00000402129.1:n.*954C>T | |
| ENST00000616902.4:c.450C>T | ENSP00000482824.1:p.Ser150= | |
| NM_006343.2:c.1481C>T | NP_006334.2:p.Pro494Leu | |
| XM_005263565.3:c.1481C>T | XP_005263622.1:p.Pro494Leu | |
| XM_005263568.3:c.1481C>T | XP_005263625.1:p.Pro494Leu | |
| XM_011510490.1:c.1292C>T | XP_011508792.1:p.Pro431Leu | |
| XM_011510491.1:c.266C>T | XP_011508793.1:p.Pro89Leu | |
| XM_005263565.4:c.1481C>T | XP_005263622.1:p.Pro494Leu | |
| XM_005263568.4:c.1481C>T | XP_005263625.1:p.Pro494Leu | |
| XM_011510490.3:c.1292C>T | XP_011508792.1:p.Pro431Leu | |
| XM_017003164.1:c.1292C>T | XP_016858653.1:p.Pro431Leu | |
| XM_017003165.2:c.266C>T | XP_016858654.1:p.Pro89Leu | |
| NM_006343.3:c.1481C>T MANE Select | NP_006334.2:p.Pro494Leu |