Linked Data
ClinVar Variation Id:
1393703
ClinVar RCV Id:
RCV001927210
dbSNP Id:
rs2139992960
gnomAD v4:
14-77518040-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77518040T>G , CM000676.2:g.77518040T>G | GRCh38 |
| NC_000014.8:g.77984383T>G , CM000676.1:g.77984383T>G | GRCh37 |
| NC_000014.7:g.77054136T>G | NCBI36 |
| NG_028282.1:g.103728A>C , LRG_371:g.103728A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686627.1:n.599A>C | ||
| ENST00000687688.1:n.1330A>C | ||
| ENST00000692906.1:n.1299A>C | ||
| ENST00000216484.7:c.1567A>C MANE Select | ENSP00000216484.2:p.Thr523Pro | |
| ENST00000216484.6:c.1567A>C | ENSP00000216484.2:p.Thr523Pro | |
| ENST00000556607.1:c.395A>C | ENSP00000451029.1:n.395A>C | |
| NM_004863.3:c.1567A>C , LRG_371t1:c.1567A>C | NP_004854.1:p.Thr523Pro | |
| NM_004863.4:c.1567A>C MANE Select | NP_004854.1:p.Thr523Pro |