Linked Data
dbSNP Id:
rs751318683
ExAC:
20:23028523 C / T
gnomAD v2:
20-23028523-C-T
gnomAD v4:
20-23047886-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.23047886C>T , CM000682.2:g.23047886C>T | GRCh38 |
| NC_000020.10:g.23028523C>T , CM000682.1:g.23028523C>T | GRCh37 |
| NC_000020.9:g.22976523C>T | NCBI36 |
| NG_012027.1:g.6779G>A , LRG_168:g.6779G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377103.3:c.1619G>A MANE Select | ENSP00000366307.2:p.Arg540His | |
| ENST00000377103.2:c.1619G>A | ENSP00000366307.2:p.Arg540His | |
| NM_000361.2:c.1619G>A , LRG_168t1:c.1619G>A | NP_000352.1:p.Arg540His | |
| NM_000361.3:c.1619G>A MANE Select | NP_000352.1:p.Arg540His |