Linked Data
dbSNP Id:
rs1256188613
gnomAD v2:
20-23028456-C-T
gnomAD v3:
20-23047819-C-T
gnomAD v4:
20-23047819-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.23047819C>T , CM000682.2:g.23047819C>T | GRCh38 |
| NC_000020.10:g.23028456C>T , CM000682.1:g.23028456C>T | GRCh37 |
| NC_000020.9:g.22976456C>T | NCBI36 |
| NG_012027.1:g.6846G>A , LRG_168:g.6846G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377103.3:c.1686G>A MANE Select | ENSP00000366307.2:p.Val562= | |
| ENST00000377103.2:c.1686G>A | ENSP00000366307.2:p.Val562= | |
| NM_000361.2:c.1686G>A , LRG_168t1:c.1686G>A | NP_000352.1:p.Val562= | |
| NM_000361.3:c.1686G>A MANE Select | NP_000352.1:p.Val562= |