Linked Data
ClinVar Variation Id:
3160471
ClinVar RCV Id:
RCV004453373
dbSNP Id:
rs747597085
ExAC:
2:224863029 T / C
gnomAD v2:
2-224863029-T-C
gnomAD v3:
2-223998312-T-C
gnomAD v4:
2-223998312-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.223998312T>C , CM000664.2:g.223998312T>C | GRCh38 |
| NC_000002.11:g.224863029T>C , CM000664.1:g.224863029T>C | GRCh37 |
| NC_000002.10:g.224571273T>C | NCBI36 |
| NG_032907.1:g.46008A>G | |
| NG_032907.2:g.46008A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258405.9:c.290A>G | ENSP00000258405.4:p.Lys97Arg | |
| ENST00000409304.6:c.290A>G MANE Select | ENSP00000386412.1:p.Lys97Arg | |
| ENST00000258405.8:c.290A>G | ENSP00000258405.4:p.Lys97Arg | |
| ENST00000409304.5:c.290A>G | ENSP00000386412.1:p.Lys97Arg | |
| ENST00000409840.7:c.290A>G | ENSP00000386969.3:p.Lys97Arg | |
| ENST00000432738.5:c.290A>G | ENSP00000408452.1:p.Lys97Arg | |
| ENST00000447280.6:c.326A>G | ENSP00000415786.2:p.Lys109Arg | |
| NM_001136528.1:c.290A>G | NP_001130000.1:p.Lys97Arg | |
| NM_001136530.1:c.326A>G | NP_001130002.1:p.Lys109Arg | |
| NM_006216.3:c.290A>G | NP_006207.1:p.Lys97Arg | |
| NR_073116.1:n.951A>G | ||
| XM_005246641.2:c.326A>G | XP_005246698.1:p.Lys109Arg | |
| XM_005246642.2:c.290A>G | XP_005246699.1:p.Lys97Arg | |
| XM_017004330.1:c.290A>G | XP_016859819.1:p.Lys97Arg | |
| XM_017004332.2:c.290A>G | XP_016859821.1:p.Lys97Arg | |
| NM_001136528.2:c.290A>G MANE Select | NP_001130000.1:p.Lys97Arg | |
| NM_006216.4:c.290A>G | NP_006207.1:p.Lys97Arg | |
| NR_073116.2:n.951A>G |