Linked Data
ClinVar Variation Id:
990464
dbSNP Id:
rs761730497
ExAC:
11:47463228 G / C
gnomAD v2:
11-47463228-G-C
gnomAD v3:
11-47441676-G-C
gnomAD v4:
11-47441676-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47441676G>C , CM000673.2:g.47441676G>C | GRCh38 |
| NC_000011.9:g.47463228G>C , CM000673.1:g.47463228G>C | GRCh37 |
| NC_000011.8:g.47419804G>C | NCBI36 |
| NG_008312.1:g.12503C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298854.7:c.847C>G MANE Select | ENSP00000298854.2:p.Leu283Val | |
| ENST00000298854.6:c.847C>G | ENSP00000298854.2:p.Leu283Val | |
| ENST00000352508.7:c.789+147C>G | ENSP00000298853.3:n.789+147C>G | |
| ENST00000524487.5:c.688C>G | ENSP00000435551.2:p.Leu230Val | |
| ENST00000528356.1:n.56C>G | ||
| ENST00000529341.1:c.789+147C>G | ENSP00000431732.1:n.789+147C>G | |
| NM_005055.4:c.847C>G | NP_005046.2:p.Leu283Val | |
| NM_032645.4:c.789+147C>G | NP_116034.2:n.789+147C>G | |
| XM_005253042.2:c.847C>G | XP_005253099.1:p.Leu283Val | |
| XM_005253043.2:c.789+147C>G | XP_005253100.1:n.789+147C>G | |
| XM_011520252.1:c.847C>G | XP_011518554.1:p.Leu283Val | |
| XM_011520253.1:c.847C>G | XP_011518555.1:p.Leu283Val | |
| XM_005253042.3:c.847C>G | XP_005253099.1:p.Leu283Val | |
| XM_005253043.3:c.789+147C>G | XP_005253100.1:n.789+147C>G | |
| NM_005055.5:c.847C>G MANE Select | NP_005046.2:p.Leu283Val | |
| NM_032645.5:c.789+147C>G | NP_116034.2:n.789+147C>G |