Linked Data
ClinVar Variation Id:
473456
dbSNP Id:
rs368303888
gnomAD v3:
12-132673232-G-C
gnomAD v4:
12-132673232-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.132673232G>C , CM000674.2:g.132673232G>C | GRCh38 |
| NC_000012.11:g.133249818G>C , CM000674.1:g.133249818G>C | GRCh37 |
| NC_000012.10:g.131759891G>C | NCBI36 |
| NG_033840.1:g.19293C>G , LRG_789:g.19293C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000539215.6:c.113C>G | ||
| ENST00000545015.2:n.1432C>G | ||
| ENST00000699982.1:c.1259C>G | ||
| ENST00000699983.1:c.1259C>G | ||
| ENST00000699984.1:c.1259C>G | ||
| ENST00000320574.10:c.1405C>G MANE Select | ENSP00000322570.5:p.Leu469Val | |
| ENST00000672742.1:c.*907C>G | ENSP00000500279.1:n.*907C>G | |
| ENST00000320574.9:c.1405C>G | ENSP00000322570.5:p.Leu469Val | |
| ENST00000535270.5:c.1324C>G | ENSP00000445753.1:p.Leu442Val | |
| ENST00000535934.2:n.1280C>G | ||
| ENST00000537064.5:c.*452C>G | ENSP00000442578.1:n.*452C>G | |
| ENST00000539215.5:n.113C>G | ||
| ENST00000545015.1:n.2C>G | ||
| NM_006231.3:c.1405C>G , LRG_789t1:c.1405C>G | NP_006222.2:p.Leu469Val | |
| XM_011534795.1:c.1405C>G | XP_011533097.1:p.Leu469Val | |
| XM_011534796.1:c.1276C>G | XP_011533098.1:p.Leu426Val | |
| XM_011534797.1:c.484C>G | XP_011533099.1:p.Leu162Val | |
| XM_011534798.1:c.67C>G | XP_011533100.1:p.Leu23Val | |
| XM_011534799.1:c.1405C>G | XP_011533101.1:p.Leu469Val | |
| XM_011534800.1:c.1405C>G | XP_011533102.1:p.Leu469Val | |
| XM_011534801.1:c.1405C>G | XP_011533103.1:p.Leu469Val | |
| XR_941395.1:n.1614C>G | ||
| XM_011534795.3:c.1405C>G | XP_011533097.1:p.Leu469Val | |
| XM_011534797.3:c.484C>G | XP_011533099.1:p.Leu162Val | |
| XM_011534799.2:c.1405C>G | XP_011533101.1:p.Leu469Val | |
| XR_002957338.1:n.1609C>G | ||
| XR_002957339.1:n.1609C>G | ||
| XR_941395.2:n.1609C>G | ||
| NM_006231.4:c.1405C>G MANE Select | NP_006222.2:p.Leu469Val |