Linked Data
ClinVar Variation Id:
2507225
ClinVar RCV Id:
RCV003239116
dbSNP Id:
rs387906771
gnomAD v2:
8-11607675-C-G
gnomAD v3:
8-11750166-C-G
gnomAD v4:
8-11750166-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.11750166C>G , CM000670.2:g.11750166C>G | GRCh38 |
| NC_000008.10:g.11607675C>G , CM000670.1:g.11607675C>G | GRCh37 |
| NC_000008.9:g.11645084C>G | NCBI36 |
| NG_008177.2:g.78248C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000622443.3:c.839C>G | ENSP00000482268.2:p.Thr280Arg | |
| ENST00000532059.6:c.842C>G MANE Select | ENSP00000435712.1:p.Thr281Arg | |
| ENST00000335135.8:c.839C>G | ENSP00000334458.4:p.Thr280Arg | |
| ENST00000526716.5:c.221C>G | ENSP00000435347.1:p.Thr74Arg | |
| ENST00000528712.5:c.221C>G | ENSP00000435043.1:p.Thr74Arg | |
| ENST00000532059.5:c.842C>G | ENSP00000435712.1:p.Thr281Arg | |
| ENST00000622443.2:c.836C>G | ENSP00000482268.1:p.Thr279Arg | |
| NM_001308093.1:c.842C>G | NP_001295022.1:p.Thr281Arg | |
| NM_001308094.1:c.221C>G | NP_001295023.1:p.Thr74Arg | |
| NM_002052.3:c.839C>G | NP_002043.2:p.Thr280Arg | |
| NM_002052.4:c.839C>G | NP_002043.2:p.Thr280Arg | |
| XM_005272385.3:c.842C>G | XP_005272442.1:p.Thr281Arg | |
| XM_005272386.1:c.842C>G | XP_005272443.1:p.Thr281Arg | |
| XM_006716248.1:c.842C>G | XP_006716311.1:p.Thr281Arg | |
| XM_011543817.1:c.842C>G | XP_011542119.1:p.Thr281Arg | |
| XM_011543818.1:c.842C>G | XP_011542120.1:p.Thr281Arg | |
| XM_005272385.4:c.842C>G | XP_005272442.1:p.Thr281Arg | |
| XM_011543817.3:c.842C>G | XP_011542119.1:p.Thr281Arg | |
| XM_011543818.2:c.842C>G | XP_011542120.1:p.Thr281Arg | |
| XM_017013312.2:c.842C>G | XP_016868801.1:p.Thr281Arg | |
| NM_001308093.3:c.842C>G MANE Select | NP_001295022.1:p.Thr281Arg | |
| NM_001308094.2:c.221C>G | NP_001295023.1:p.Thr74Arg | |
| NM_001374273.1:c.221C>G | NP_001361202.1:p.Thr74Arg | |
| NM_001374274.1:c.165+1081C>G | NP_001361203.1:n.165+1081C>G | |
| NM_002052.5:c.839C>G | NP_002043.2:p.Thr280Arg |