Linked Data
dbSNP Id:
rs143625916
gnomAD v2:
20-23028473-G-T
gnomAD v3:
20-23047836-G-T
gnomAD v4:
20-23047836-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.23047836G>T , CM000682.2:g.23047836G>T | GRCh38 |
| NC_000020.10:g.23028473G>T , CM000682.1:g.23028473G>T | GRCh37 |
| NC_000020.9:g.22976473G>T | NCBI36 |
| NG_012027.1:g.6829C>A , LRG_168:g.6829C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377103.3:c.1669C>A MANE Select | ENSP00000366307.2:p.Pro557Thr | |
| ENST00000377103.2:c.1669C>A | ENSP00000366307.2:p.Pro557Thr | |
| NM_000361.2:c.1669C>A , LRG_168t1:c.1669C>A | NP_000352.1:p.Pro557Thr | |
| NM_000361.3:c.1669C>A MANE Select | NP_000352.1:p.Pro557Thr |