Linked Data
ClinVar Variation Id:
522495
ClinVar RCV Id:
RCV000625637
dbSNP Id:
rs1466787789
gnomAD v4:
4-158703447-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.158703447G>C , CM000666.2:g.158703447G>C | GRCh38 |
| NC_000004.11:g.159624599G>C , CM000666.1:g.159624599G>C | GRCh37 |
| NC_000004.10:g.159844049G>C | NCBI36 |
| NG_007078.2:g.36106G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681978.1:n.2677G>C | ||
| ENST00000682178.1:n.2173G>C | ||
| ENST00000682345.1:c.*841G>C | ENSP00000508122.1:n.*841G>C | |
| ENST00000682452.1:n.1472G>C | ||
| ENST00000682456.1:c.1000G>C | ENSP00000508240.1:p.Gly334Arg | |
| ENST00000682566.1:n.1924G>C | ||
| ENST00000682613.1:n.1453G>C | ||
| ENST00000682734.1:c.-33G>C | ENSP00000507860.1:n.-33G>C | |
| ENST00000682820.1:n.1178G>C | ||
| ENST00000683004.1:c.*834G>C | ENSP00000506936.1:n.*834G>C | |
| ENST00000683079.1:c.*566G>C | ENSP00000507296.1:n.*566G>C | |
| ENST00000683081.1:c.*978G>C | ENSP00000507722.1:n.*978G>C | |
| ENST00000683181.1:n.420G>C | ||
| ENST00000683209.1:n.3467G>C | ||
| ENST00000683305.1:c.958G>C | ENSP00000508043.1:p.Gly320Arg | |
| ENST00000683448.1:c.*61G>C | ENSP00000506931.1:n.*61G>C | |
| ENST00000683478.1:c.*492G>C | ENSP00000507793.1:n.*492G>C | |
| ENST00000683483.1:c.997G>C | ENSP00000507719.1:p.Gly333Arg | |
| ENST00000683622.1:n.855G>C | ||
| ENST00000683751.1:c.646G>C | ENSP00000506944.1:p.Gly216Arg | |
| ENST00000684036.1:c.958G>C | ENSP00000507276.1:p.Gly320Arg | |
| ENST00000684129.1:c.-33G>C | ENSP00000507174.1:n.-33G>C | |
| ENST00000684209.1:n.1516G>C | ||
| ENST00000684296.1:c.*61G>C | ENSP00000507740.1:n.*61G>C | |
| ENST00000684505.1:c.1090G>C | ENSP00000508237.1:p.Gly364Arg | |
| ENST00000684552.1:c.*61G>C | ENSP00000506899.1:n.*61G>C | |
| ENST00000684611.1:n.2869G>C | ||
| ENST00000684622.1:c.1141G>C | ENSP00000507546.1:p.Gly381Arg | |
| ENST00000684627.1:c.958G>C | ENSP00000507471.1:p.Gly320Arg | |
| ENST00000684641.1:c.856G>C | ENSP00000507642.1:p.Gly286Arg | |
| ENST00000684675.1:c.1182G>C | ENSP00000506934.1:p.Leu394= | |
| ENST00000684749.1:n.1210G>C | ||
| ENST00000511912.6:c.1141G>C MANE Select | ENSP00000426638.1:p.Gly381Arg | |
| ENST00000307738.5:c.1000G>C | ENSP00000303552.5:p.Gly334Arg | |
| ENST00000506422.1:n.111G>C | ||
| ENST00000511912.5:c.1141G>C | ENSP00000426638.1:p.Gly381Arg | |
| NM_001281737.1:c.1000G>C | NP_001268666.1:p.Gly334Arg | |
| NM_001281738.1:c.958G>C | NP_001268667.1:p.Gly320Arg | |
| NM_004453.3:c.1141G>C | NP_004444.2:p.Gly381Arg | |
| XM_024453935.1:c.958G>C | XP_024309703.1:p.Gly320Arg | |
| NM_004453.4:c.1141G>C MANE Select | NP_004444.2:p.Gly381Arg | |
| NM_001281737.2:c.1000G>C | NP_001268666.1:p.Gly334Arg |