Linked Data
ClinVar Variation Id:
2157667
ClinVar RCV Id:
RCV003078214
dbSNP Id:
rs1009074785
gnomAD v3:
17-42536621-G-C
gnomAD v4:
17-42536621-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42536621G>C , CM000679.2:g.42536621G>C | GRCh38 |
| NC_000017.10:g.40688639G>C , CM000679.1:g.40688639G>C | GRCh37 |
| NC_000017.9:g.37942165G>C | NCBI36 |
| NG_011552.1:g.5689G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.349G>C MANE Select | ENSP00000225927.1:p.Val117Leu | |
| ENST00000225927.6:c.349G>C | ENSP00000225927.1:p.Val117Leu | |
| ENST00000586516.5:c.99G>C | ||
| ENST00000591587.1:c.92G>C | ENSP00000467836.1:p.Arg31Pro | |
| NM_000263.3:c.349G>C | NP_000254.2:p.Val117Leu | |
| XM_006721920.2:c.-394G>C | XP_006721983.1:n.-394G>C | |
| XM_011524840.1:c.-394G>C | XP_011523142.1:n.-394G>C | |
| XM_024450771.1:c.349G>C | XP_024306539.1:p.Val117Leu | |
| NM_000263.4:c.349G>C MANE Select | NP_000254.2:p.Val117Leu |