Linked Data
ClinVar Variation Id:
524726
ClinVar RCV Id:
RCV000628578
dbSNP Id:
rs780417247
gnomAD v3:
11-2884049-A-C
gnomAD v4:
11-2884049-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2884049A>C , CM000673.2:g.2884049A>C | GRCh38 |
| NC_000011.9:g.2905279A>C , CM000673.1:g.2905279A>C | GRCh37 |
| NC_000011.8:g.2861855A>C | NCBI36 |
| NG_008022.1:g.6717T>G , LRG_533:g.6717T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681969.1:n.228T>G | ||
| ENST00000380725.2:c.341T>G | ENSP00000370101.1:p.Leu114Arg | |
| ENST00000414822.8:c.906T>G | ENSP00000413720.3:p.Pro302= | |
| ENST00000430149.3:c.906T>G | ENSP00000411552.2:p.Pro302= | |
| ENST00000440480.8:c.873T>G MANE Select | ENSP00000411257.2:p.Pro291= | |
| ENST00000647251.1:c.341T>G | ENSP00000496631.1:p.Leu114Arg | |
| ENST00000380725.1:c.341T>G | ENSP00000370101.1:p.Leu114Arg | |
| ENST00000414822.7:c.906T>G | ENSP00000413720.3:p.Pro302= | |
| ENST00000430149.2:c.906T>G | ENSP00000411552.2:p.Pro302= | |
| ENST00000440480.6:c.873T>G | ENSP00000411257.2:p.Pro291= | |
| ENST00000471157.2:n.653T>G | ||
| NM_000076.2:c.906T>G , LRG_533t1:c.906T>G | NP_000067.1:p.Pro302= | |
| NM_001122630.1:c.873T>G | NP_001116102.1:p.Pro291= | |
| NM_001122631.1:c.873T>G | NP_001116103.1:p.Pro291= | |
| XM_005252732.3:c.341T>G | XP_005252789.1:p.Leu114Arg | |
| NM_001362474.1:c.906T>G | NP_001349403.1:p.Pro302= | |
| NM_001362475.1:c.341T>G | NP_001349404.1:p.Leu114Arg | |
| NM_001122630.2:c.873T>G MANE Select | NP_001116102.1:p.Pro291= | |
| NM_001122631.2:c.873T>G | NP_001116103.1:p.Pro291= | |
| NM_001362474.2:c.906T>G | NP_001349403.1:p.Pro302= | |
| NM_001362475.2:c.341T>G | NP_001349404.1:p.Leu114Arg |