Linked Data
ClinVar Variation Id:
252506
dbSNP Id:
rs781018006
ExAC:
3:30713642 C / G
gnomAD v2:
3-30713642-C-G
gnomAD v4:
3-30672150-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.30672150C>G , CM000665.2:g.30672150C>G | GRCh38 |
| NC_000003.11:g.30713642C>G , CM000665.1:g.30713642C>G | GRCh37 |
| NC_000003.10:g.30688646C>G | NCBI36 |
| NG_007490.1:g.70649C>G , LRG_779:g.70649C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295754.10:c.967C>G MANE Select | ENSP00000295754.5:p.Leu323Val | |
| ENST00000672866.1:n.2563C>G | ||
| ENST00000295754.9:c.967C>G | ENSP00000295754.5:p.Leu323Val | |
| ENST00000359013.4:c.1042C>G | ENSP00000351905.4:p.Leu348Val | |
| NM_001024847.2:c.1042C>G , LRG_779t1:c.1042C>G | NP_001020018.1:p.Leu348Val | |
| NM_003242.5:c.967C>G | NP_003233.4:p.Leu323Val | |
| XM_011534043.1:c.994C>G | XP_011532345.1:p.Leu332Val | |
| XM_011534044.1:c.919C>G | XP_011532346.1:p.Leu307Val | |
| XM_011534045.1:c.862C>G | XP_011532347.1:p.Leu288Val | |
| XM_011534043.2:c.994C>G | XP_011532345.1:p.Leu332Val | |
| XM_011534045.3:c.862C>G | XP_011532347.1:p.Leu288Val | |
| XM_017007106.1:c.862C>G | XP_016862595.1:p.Leu288Val | |
| NM_003242.6:c.967C>G MANE Select | NP_003233.4:p.Leu323Val |