Linked Data
ClinVar Variation Id:
6736
ClinVar RCV Id:
RCV000007128
dbSNP Id:
rs121908942
PubMed:
PMID:10647011
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32800916G>A , CM000682.2:g.32800916G>A | GRCh38 |
| NC_000020.10:g.31388722G>A , CM000682.1:g.31388722G>A | GRCh37 |
| NC_000020.9:g.30852383G>A | NCBI36 |
| NG_007290.1:g.43532G>A , LRG_56:g.43532G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696231.1:c.*938G>A | ENSP00000512497.1:n.*938G>A | |
| ENST00000696232.1:c.1987G>A | ENSP00000512498.1:p.Gly663Ser | |
| ENST00000696233.1:c.*730G>A | ENSP00000512499.1:n.*730G>A | |
| ENST00000696238.1:c.*730G>A | ENSP00000512502.1:n.*730G>A | |
| ENST00000696239.1:c.1768G>A | ENSP00000512503.1:p.Gly590Ser | |
| ENST00000696245.1:n.82G>A | ||
| ENST00000201963.3:c.1963G>A | ENSP00000201963.3:p.Gly655Ser | |
| ENST00000328111.6:c.1987G>A MANE Select | ENSP00000328547.2:p.Gly663Ser | |
| ENST00000348286.6:c.1927G>A | ENSP00000337764.2:p.Gly643Ser | |
| ENST00000353855.6:c.1927G>A | ENSP00000313397.4:p.Gly643Ser | |
| ENST00000443239.7:c.1801G>A | ENSP00000403169.2:p.Gly601Ser | |
| ENST00000456297.6:c.1699G>A | ENSP00000412305.1:p.Gly567Ser | |
| NM_001207055.1:c.1801G>A | NP_001193984.1:p.Gly601Ser | |
| NM_001207056.1:c.1699G>A | NP_001193985.1:p.Gly567Ser | |
| NM_006892.3:c.1987G>A , LRG_56t1:c.1987G>A | NP_008823.1:p.Gly663Ser | |
| NM_175848.1:c.1927G>A | NP_787044.1:p.Gly643Ser | |
| NM_175849.1:c.1927G>A | NP_787045.1:p.Gly643Ser | |
| NM_175850.2:c.1963G>A | NP_787046.1:p.Gly655Ser | |
| XM_011528653.1:c.1963G>A | XP_011526955.1:p.Gly655Ser | |
| XM_011528654.1:c.1837G>A | XP_011526956.1:p.Gly613Ser | |
| XR_936510.1:n.1954G>A | ||
| XR_936511.1:n.1954G>A | ||
| XR_936512.1:n.1829G>A | ||
| XM_011528653.2:c.1963G>A | XP_011526955.1:p.Gly655Ser | |
| XM_011528654.2:c.1837G>A | XP_011526956.1:p.Gly613Ser | |
| XR_936510.2:n.1965G>A | ||
| XR_936511.2:n.1965G>A | ||
| XR_936512.2:n.1841G>A | ||
| NM_001207055.2:c.1801G>A | NP_001193984.1:p.Gly601Ser | |
| NM_001207056.2:c.1699G>A | NP_001193985.1:p.Gly567Ser | |
| NM_006892.4:c.1987G>A MANE Select | NP_008823.1:p.Gly663Ser | |
| NM_175848.2:c.1927G>A | NP_787044.1:p.Gly643Ser | |
| NM_175849.2:c.1927G>A | NP_787045.1:p.Gly643Ser | |
| NM_175850.3:c.1963G>A | NP_787046.1:p.Gly655Ser |