Linked Data
ClinVar Variation Id:
2756878
ClinVar RCV Id:
RCV003510050
dbSNP Id:
rs2147681671
gnomAD v3:
19-17834660-A-G
gnomAD v4:
19-17834660-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17834660A>G , CM000681.2:g.17834660A>G | GRCh38 |
| NC_000019.9:g.17945469A>G , CM000681.1:g.17945469A>G | GRCh37 |
| NC_000019.8:g.17806469A>G | NCBI36 |
| NG_007273.1:g.18332T>C , LRG_77:g.18332T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526008.6:c.*818T>C | ENSP00000513006.1:n.*818T>C | |
| ENST00000696967.1:n.1438T>C | ||
| ENST00000696970.1:n.916T>C | ||
| ENST00000458235.7:c.2261T>C MANE Select | ENSP00000391676.1:p.Leu754Pro | |
| ENST00000458235.5:c.2261T>C | ENSP00000391676.1:p.Leu754Pro | |
| ENST00000527031.5:n.2278+2067T>C | ||
| ENST00000527670.5:c.2261T>C | ENSP00000432511.1:p.Leu754Pro | |
| ENST00000534444.1:c.2261T>C | ENSP00000436421.1:p.Leu754Pro | |
| NM_000215.3:c.2261T>C , LRG_77t1:c.2261T>C | NP_000206.2:p.Leu754Pro | |
| XM_005259896.2:c.2390T>C | XP_005259953.1:p.Leu797Pro | |
| XM_006722745.2:c.2261T>C | XP_006722808.1:p.Leu754Pro | |
| XM_011527990.1:c.2390T>C | XP_011526292.1:p.Leu797Pro | |
| XR_430137.2:n.2400T>C | ||
| XM_005259896.3:c.2390T>C | XP_005259953.1:p.Leu797Pro | |
| NM_000215.4:c.2261T>C MANE Select | NP_000206.2:p.Leu754Pro |