Linked Data
ClinVar Variation Id:
18446
ClinVar RCV Id:
RCV000009292
dbSNP Id:
rs267606716
gnomAD v4:
11-2884110-G-T
PubMed:
PMID:20503313
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2884110G>T , CM000673.2:g.2884110G>T | GRCh38 |
| NC_000011.9:g.2905340G>T , CM000673.1:g.2905340G>T | GRCh37 |
| NC_000011.8:g.2861916G>T | NCBI36 |
| NG_008022.1:g.6656C>A , LRG_533:g.6656C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681969.1:n.167C>A | ||
| ENST00000380725.2:c.280C>A | ENSP00000370101.1:p.Gln94Lys | |
| ENST00000414822.8:c.845C>A | ENSP00000413720.3:p.Ser282Ter | |
| ENST00000430149.3:c.845C>A | ENSP00000411552.2:p.Ser282Ter | |
| ENST00000440480.8:c.812C>A MANE Select | ENSP00000411257.2:p.Ser271Ter | |
| ENST00000647251.1:c.280C>A | ENSP00000496631.1:p.Gln94Lys | |
| ENST00000380725.1:c.280C>A | ENSP00000370101.1:p.Gln94Lys | |
| ENST00000414822.7:c.845C>A | ENSP00000413720.3:p.Ser282Ter | |
| ENST00000430149.2:c.845C>A | ENSP00000411552.2:p.Ser282Ter | |
| ENST00000440480.6:c.812C>A | ENSP00000411257.2:p.Ser271Ter | |
| ENST00000471157.2:n.592C>A | ||
| NM_000076.2:c.845C>A , LRG_533t1:c.845C>A | NP_000067.1:p.Ser282Ter | |
| NM_001122630.1:c.812C>A | NP_001116102.1:p.Ser271Ter | |
| NM_001122631.1:c.812C>A | NP_001116103.1:p.Ser271Ter | |
| XM_005252732.3:c.280C>A | XP_005252789.1:p.Gln94Lys | |
| NM_001362474.1:c.845C>A | NP_001349403.1:p.Ser282Ter | |
| NM_001362475.1:c.280C>A | NP_001349404.1:p.Gln94Lys | |
| NM_001122630.2:c.812C>A MANE Select | NP_001116102.1:p.Ser271Ter | |
| NM_001122631.2:c.812C>A | NP_001116103.1:p.Ser271Ter | |
| NM_001362474.2:c.845C>A | NP_001349403.1:p.Ser282Ter | |
| NM_001362475.2:c.280C>A | NP_001349404.1:p.Gln94Lys |