Linked Data
ClinVar Variation Id:
2781669
ClinVar RCV Id:
RCV003661984
dbSNP Id:
rs752252782
ExAC:
20:23028731 C / T
gnomAD v2:
20-23028731-C-T
gnomAD v3:
20-23048094-C-T
gnomAD v4:
20-23048094-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.23048094C>T , CM000682.2:g.23048094C>T | GRCh38 |
| NC_000020.10:g.23028731C>T , CM000682.1:g.23028731C>T | GRCh37 |
| NC_000020.9:g.22976731C>T | NCBI36 |
| NG_012027.1:g.6571G>A , LRG_168:g.6571G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000377103.3:c.1411G>A MANE Select | ENSP00000366307.2:p.Ala471Thr | |
| ENST00000377103.2:c.1411G>A | ENSP00000366307.2:p.Ala471Thr | |
| NM_000361.2:c.1411G>A , LRG_168t1:c.1411G>A | NP_000352.1:p.Ala471Thr | |
| NM_000361.3:c.1411G>A MANE Select | NP_000352.1:p.Ala471Thr |