Linked Data
ClinVar Variation Id:
3214120
ClinVar RCV Id:
RCV004511492
dbSNP Id:
rs140046515
ExAC:
15:42364485 G / C
gnomAD v2:
15-42364485-G-C
gnomAD v3:
15-42072287-G-C
gnomAD v4:
15-42072287-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42072287G>C , CM000677.2:g.42072287G>C | GRCh38 |
| NC_000015.9:g.42364485G>C , CM000677.1:g.42364485G>C | GRCh37 |
| NC_000015.8:g.40151777G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290472.4:c.1423C>G MANE Select | ENSP00000290472.3:p.Leu475Val | |
| ENST00000290472.3:c.1423C>G | ENSP00000290472.3:p.Leu475Val | |
| NM_178034.3:c.1423C>G | NP_828848.3:p.Leu475Val | |
| XM_011521467.1:c.1255C>G | XP_011519769.1:p.Leu419Val | |
| XR_931798.1:n.1523C>G | ||
| XM_011521467.2:c.1255C>G | XP_011519769.1:p.Leu419Val | |
| XR_931798.2:n.1523C>G | ||
| NM_178034.4:c.1423C>G MANE Select | NP_828848.3:p.Leu475Val |