Linked Data
ClinVar Variation Id:
463725
ClinVar RCV Id:
RCV000534032
dbSNP Id:
rs1181682630
gnomAD v2:
16-68853259-C-G
gnomAD v4:
16-68819356-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68819356C>G , CM000678.2:g.68819356C>G | GRCh38 |
| NC_000016.9:g.68853259C>G , CM000678.1:g.68853259C>G | GRCh37 |
| NC_000016.8:g.67410760C>G | NCBI36 |
| NG_008021.1:g.87065C>G , LRG_301:g.87065C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.10:c.1642C>G MANE Select | ENSP00000261769.4:p.Leu548Val | |
| ENST00000261769.9:c.1642C>G | ENSP00000261769.4:p.Leu548Val | |
| ENST00000422392.6:c.1459C>G | ENSP00000414946.2:p.Leu487Val | |
| ENST00000562836.5:n.1713C>G | ||
| ENST00000566510.5:c.*308C>G | ENSP00000458139.1:n.*308C>G | |
| ENST00000566612.5:c.1566-2645C>G | ENSP00000454782.1:n.1566-2645C>G | |
| ENST00000611625.4:c.1705C>G | ENSP00000481063.1:p.Leu569Val | |
| ENST00000612417.4:c.1642C>G | ENSP00000478360.1:p.Leu548Val | |
| ENST00000621016.4:c.1642C>G | ENSP00000480664.1:p.Leu548Val | |
| NM_004360.3:c.1642C>G , LRG_301t1:c.1642C>G | NP_004351.1:p.Leu548Val | |
| XM_011523488.1:c.907C>G | XP_011521790.1:p.Leu303Val | |
| XM_011523489.1:c.907C>G | XP_011521791.1:p.Leu303Val | |
| NM_001317184.1:c.1459C>G | NP_001304113.1:p.Leu487Val | |
| NM_001317185.1:c.94C>G | NP_001304114.1:p.Leu32Val | |
| NM_001317186.1:c.-254-2645C>G | NP_001304115.1:n.-254-2645C>G | |
| NM_004360.4:c.1642C>G | NP_004351.1:p.Leu548Val | |
| NM_004360.5:c.1642C>G MANE Select | NP_004351.1:p.Leu548Val | |
| NM_001317184.2:c.1459C>G | NP_001304113.1:p.Leu487Val | |
| NM_001317185.2:c.94C>G | NP_001304114.1:p.Leu32Val | |
| NM_001317186.2:c.-254-2645C>G | NP_001304115.1:n.-254-2645C>G |