Linked Data
ClinVar Variation Id:
1978463
ClinVar RCV Id:
RCV002750998
dbSNP Id:
rs775722470
gnomAD v2:
20-23028505-G-A
gnomAD v4:
20-23047868-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.23047868G>A , CM000682.2:g.23047868G>A | GRCh38 |
| NC_000020.10:g.23028505G>A , CM000682.1:g.23028505G>A | GRCh37 |
| NC_000020.9:g.22976505G>A | NCBI36 |
| NG_012027.1:g.6797C>T , LRG_168:g.6797C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377103.3:c.1637C>T MANE Select | ENSP00000366307.2:p.Ala546Val | |
| ENST00000377103.2:c.1637C>T | ENSP00000366307.2:p.Ala546Val | |
| NM_000361.2:c.1637C>T , LRG_168t1:c.1637C>T | NP_000352.1:p.Ala546Val | |
| NM_000361.3:c.1637C>T MANE Select | NP_000352.1:p.Ala546Val |