Linked Data
ClinVar Variation Id:
1050074
ClinVar RCV Id:
RCV001356935
dbSNP Id:
rs1347191709
gnomAD v4:
17-16948831-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.16948831G>C , CM000679.2:g.16948831G>C | GRCh38 |
| NC_000017.10:g.16852145G>C , CM000679.1:g.16852145G>C | GRCh37 |
| NC_000017.9:g.16792870G>C | NCBI36 |
| NG_007281.1:g.28258C>G , LRG_120:g.28258C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261652.7:c.352C>G MANE Select | ENSP00000261652.2:p.Leu118Val | |
| ENST00000261652.6:c.352C>G | ENSP00000261652.2:p.Leu118Val | |
| ENST00000579315.5:c.352C>G | ENSP00000464069.1:p.Leu118Val | |
| ENST00000581616.2:n.355C>G | ||
| ENST00000582931.5:n.256C>G | ||
| ENST00000583789.1:c.214C>G | ENSP00000462952.1:p.Leu72Val | |
| ENST00000584950.5:c.214C>G | ENSP00000463582.1:p.Leu72Val | |
| NM_012452.2:c.352C>G , LRG_120t1:c.352C>G | NP_036584.1:p.Leu118Val | |
| NM_012452.3:c.352C>G MANE Select | NP_036584.1:p.Leu118Val |