Linked Data
ClinVar Variation Id:
996163
dbSNP Id:
rs79208797
gnomAD v2:
17-45363676-T-C
gnomAD v3:
17-47286310-T-C
gnomAD v4:
17-47286310-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47286310T>C , CM000679.2:g.47286310T>C | GRCh38 |
| NC_000017.10:g.45363676T>C , CM000679.1:g.45363676T>C | GRCh37 |
| NC_000017.9:g.42718675T>C | NCBI36 |
| NG_008332.2:g.37469T>C , LRG_481:g.37469T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696963.1:c.665T>C | ENSP00000513002.1:p.Leu222Pro | |
| ENST00000559488.7:c.665T>C MANE Select | ENSP00000452786.2:p.Leu222Pro | |
| ENST00000559488.5:c.665T>C | ENSP00000452786.1:p.Leu222Pro | |
| ENST00000560629.1:c.630T>C | ||
| ENST00000571680.1:c.665T>C | ENSP00000461626.1:p.Leu222Pro | |
| NM_000212.2:c.665T>C , LRG_481t1:c.665T>C | NP_000203.2:p.Leu222Pro | |
| NM_000212.3:c.665T>C MANE Select | NP_000203.2:p.Leu222Pro |