Linked Data
ClinVar Variation Id:
387595
dbSNP Id:
rs773539946
ExAC:
8:118842474 G / C
gnomAD v2:
8-118842474-G-C
gnomAD v3:
8-117830235-G-C
gnomAD v4:
8-117830235-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.117830235G>C , CM000670.2:g.117830235G>C | GRCh38 |
| NC_000008.10:g.118842474G>C , CM000670.1:g.118842474G>C | GRCh37 |
| NC_000008.9:g.118911655G>C | NCBI36 |
| NG_007455.2:g.286585C>G , LRG_493:g.286585C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684189.1:n.746C>G | ||
| ENST00000378204.7:c.1279C>G MANE Select | ENSP00000367446.3:p.Leu427Val | |
| ENST00000436216.2:c.702C>G | ||
| ENST00000378204.6:c.1279C>G | ENSP00000367446.2:p.Leu427Val | |
| ENST00000437196.1:c.*170C>G | ENSP00000407299.1:n.*170C>G | |
| NM_000127.2:c.1279C>G , LRG_493t1:c.1279C>G | NP_000118.2:p.Leu427Val | |
| NM_000127.3:c.1279C>G MANE Select | NP_000118.2:p.Leu427Val |