Linked Data
ClinVar Variation Id:
919652
ClinVar RCV Id:
RCV001177962
dbSNP Id:
rs1699353812
gnomAD v4:
3-30672180-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.30672180C>G , CM000665.2:g.30672180C>G | GRCh38 |
| NC_000003.11:g.30713672C>G , CM000665.1:g.30713672C>G | GRCh37 |
| NC_000003.10:g.30688676C>G | NCBI36 |
| NG_007490.1:g.70679C>G , LRG_779:g.70679C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295754.10:c.997C>G MANE Select | ENSP00000295754.5:p.Leu333Val | |
| ENST00000672866.1:n.2593C>G | ||
| ENST00000295754.9:c.997C>G | ENSP00000295754.5:p.Leu333Val | |
| ENST00000359013.4:c.1072C>G | ENSP00000351905.4:p.Leu358Val | |
| NM_001024847.2:c.1072C>G , LRG_779t1:c.1072C>G | NP_001020018.1:p.Leu358Val | |
| NM_003242.5:c.997C>G | NP_003233.4:p.Leu333Val | |
| XM_011534043.1:c.1024C>G | XP_011532345.1:p.Leu342Val | |
| XM_011534044.1:c.949C>G | XP_011532346.1:p.Leu317Val | |
| XM_011534045.1:c.892C>G | XP_011532347.1:p.Leu298Val | |
| XM_011534043.2:c.1024C>G | XP_011532345.1:p.Leu342Val | |
| XM_011534045.3:c.892C>G | XP_011532347.1:p.Leu298Val | |
| XM_017007106.1:c.892C>G | XP_016862595.1:p.Leu298Val | |
| NM_003242.6:c.997C>G MANE Select | NP_003233.4:p.Leu333Val |