Linked Data
ClinVar Variation Id:
340025
dbSNP Id:
rs187728866
ExAC:
21:43164278 C / T
gnomAD v2:
21-43164278-C-T
gnomAD v3:
21-41744118-C-T
gnomAD v4:
21-41744118-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.41744118C>T , CM000683.2:g.41744118C>T | GRCh38 |
| NC_000021.8:g.43164278C>T , CM000683.1:g.43164278C>T | GRCh37 |
| NC_000021.7:g.42037347C>T | NCBI36 |
| NG_032113.1:g.27972G>A | |
| NG_032113.2:g.27972G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332512.8:c.959G>A MANE Select | ENSP00000332454.3:p.Arg320Gln | |
| ENST00000332512.7:c.959G>A | ENSP00000332454.3:p.Arg320Gln | |
| ENST00000352483.3:c.1103G>A | ENSP00000330161.2:p.Arg368Gln | |
| NM_020639.2:c.959G>A | NP_065690.2:p.Arg320Gln | |
| NM_020639.3:c.959G>A MANE Select | NP_065690.2:p.Arg320Gln |