Linked Data
ClinVar Variation Id:
338177
ClinVar RCV Id:
RCV000360530
dbSNP Id:
rs886056616
gnomAD v4:
20-32800253-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32800253G>C , CM000682.2:g.32800253G>C | GRCh38 |
| NC_000020.10:g.31388059G>C , CM000682.1:g.31388059G>C | GRCh37 |
| NC_000020.9:g.30851720G>C | NCBI36 |
| NG_007290.1:g.42869G>C , LRG_56:g.42869G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696231.1:c.*811G>C | ENSP00000512497.1:n.*811G>C | |
| ENST00000696232.1:c.1860G>C | ENSP00000512498.1:p.Gly620= | |
| ENST00000696233.1:c.*603G>C | ENSP00000512499.1:n.*603G>C | |
| ENST00000696235.1:c.*508G>C | ENSP00000512500.1:n.*508G>C | |
| ENST00000696238.1:c.*603G>C | ENSP00000512502.1:n.*603G>C | |
| ENST00000696239.1:c.1641G>C | ENSP00000512503.1:p.Gly547= | |
| ENST00000201963.3:c.1836G>C | ENSP00000201963.3:p.Gly612= | |
| ENST00000328111.6:c.1860G>C MANE Select | ENSP00000328547.2:p.Gly620= | |
| ENST00000348286.6:c.1800G>C | ENSP00000337764.2:p.Gly600= | |
| ENST00000353855.6:c.1800G>C | ENSP00000313397.4:p.Gly600= | |
| ENST00000443239.7:c.1674G>C | ENSP00000403169.2:p.Gly558= | |
| ENST00000456297.6:c.1572G>C | ENSP00000412305.1:p.Gly524= | |
| NM_001207055.1:c.1674G>C | NP_001193984.1:p.Gly558= | |
| NM_001207056.1:c.1572G>C | NP_001193985.1:p.Gly524= | |
| NM_006892.3:c.1860G>C , LRG_56t1:c.1860G>C | NP_008823.1:p.Gly620= | |
| NM_175848.1:c.1800G>C | NP_787044.1:p.Gly600= | |
| NM_175849.1:c.1800G>C | NP_787045.1:p.Gly600= | |
| NM_175850.2:c.1836G>C | NP_787046.1:p.Gly612= | |
| XM_011528653.1:c.1836G>C | XP_011526955.1:p.Gly612= | |
| XM_011528654.1:c.1710G>C | XP_011526956.1:p.Gly570= | |
| XR_936510.1:n.1827G>C | ||
| XR_936511.1:n.1827G>C | ||
| XR_936512.1:n.1702G>C | ||
| XM_011528653.2:c.1836G>C | XP_011526955.1:p.Gly612= | |
| XM_011528654.2:c.1710G>C | XP_011526956.1:p.Gly570= | |
| XR_936510.2:n.1838G>C | ||
| XR_936511.2:n.1838G>C | ||
| XR_936512.2:n.1714G>C | ||
| NM_001207055.2:c.1674G>C | NP_001193984.1:p.Gly558= | |
| NM_001207056.2:c.1572G>C | NP_001193985.1:p.Gly524= | |
| NM_006892.4:c.1860G>C MANE Select | NP_008823.1:p.Gly620= | |
| NM_175848.2:c.1800G>C | NP_787044.1:p.Gly600= | |
| NM_175849.2:c.1800G>C | NP_787045.1:p.Gly600= | |
| NM_175850.3:c.1836G>C | NP_787046.1:p.Gly612= |