Linked Data
ClinVar Variation Id:
2516791
ClinVar RCV Id:
RCV004296460
dbSNP Id:
rs374981227
ExAC:
20:44576344 C / T
gnomAD v2:
20-44576344-C-T
gnomAD v3:
20-45947705-C-T
gnomAD v4:
20-45947705-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.45947705C>T , CM000682.2:g.45947705C>T | GRCh38 |
| NC_000020.10:g.44576344C>T , CM000682.1:g.44576344C>T | GRCh37 |
| NC_000020.9:g.44009751C>T | NCBI36 |
| NG_029772.1:g.29490G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372409.8:c.2065C>T MANE Select | ENSP00000361486.3:p.Arg689Trp | |
| ENST00000372409.7:c.2065C>T | ENSP00000361486.3:p.Arg689Trp | |
| ENST00000479348.2:c.1006C>T | ||
| NM_022104.3:c.2065C>T | NP_071387.1:p.Arg689Trp | |
| XM_011528980.1:c.2065C>T | XP_011527282.1:p.Arg689Trp | |
| XM_011528981.1:c.2065C>T | XP_011527283.1:p.Arg689Trp | |
| XM_011528982.1:c.1021C>T | XP_011527284.1:p.Arg341Trp | |
| XM_011528980.3:c.2065C>T | XP_011527282.1:p.Arg689Trp | |
| XM_011528981.3:c.2065C>T | XP_011527283.1:p.Arg689Trp | |
| XM_017028013.2:c.2065C>T | XP_016883502.1:p.Arg689Trp | |
| XM_017028014.2:c.1021C>T | XP_016883503.1:p.Arg341Trp | |
| NM_022104.4:c.2065C>T MANE Select | NP_071387.1:p.Arg689Trp |