Linked Data
ClinVar Variation Id:
412848
ClinVar RCV Id:
RCV000468696
dbSNP Id:
rs1060503861
gnomAD v2:
11-2905267-C-G
gnomAD v3:
11-2884037-C-G
gnomAD v4:
11-2884037-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2884037C>G , CM000673.2:g.2884037C>G | GRCh38 |
| NC_000011.9:g.2905267C>G , CM000673.1:g.2905267C>G | GRCh37 |
| NC_000011.8:g.2861843C>G | NCBI36 |
| NG_008022.1:g.6729G>C , LRG_533:g.6729G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681969.1:n.240G>C | ||
| ENST00000380725.2:c.353G>C | ENSP00000370101.1:p.Arg118Pro | |
| ENST00000414822.8:c.918G>C | ENSP00000413720.3:p.Ser306= | |
| ENST00000430149.3:c.918G>C | ENSP00000411552.2:p.Ser306= | |
| ENST00000440480.8:c.885G>C MANE Select | ENSP00000411257.2:p.Ser295= | |
| ENST00000647251.1:c.353G>C | ENSP00000496631.1:p.Arg118Pro | |
| ENST00000380725.1:c.353G>C | ENSP00000370101.1:p.Arg118Pro | |
| ENST00000414822.7:c.918G>C | ENSP00000413720.3:p.Ser306= | |
| ENST00000430149.2:c.918G>C | ENSP00000411552.2:p.Ser306= | |
| ENST00000440480.6:c.885G>C | ENSP00000411257.2:p.Ser295= | |
| ENST00000471157.2:n.665G>C | ||
| NM_000076.2:c.918G>C , LRG_533t1:c.918G>C | NP_000067.1:p.Ser306= | |
| NM_001122630.1:c.885G>C | NP_001116102.1:p.Ser295= | |
| NM_001122631.1:c.885G>C | NP_001116103.1:p.Ser295= | |
| XM_005252732.3:c.353G>C | XP_005252789.1:p.Arg118Pro | |
| NM_001362474.1:c.918G>C | NP_001349403.1:p.Ser306= | |
| NM_001362475.1:c.353G>C | NP_001349404.1:p.Arg118Pro | |
| NM_001122630.2:c.885G>C MANE Select | NP_001116102.1:p.Ser295= | |
| NM_001122631.2:c.885G>C | NP_001116103.1:p.Ser295= | |
| NM_001362474.2:c.918G>C | NP_001349403.1:p.Ser306= | |
| NM_001362475.2:c.353G>C | NP_001349404.1:p.Arg118Pro |