Linked Data
dbSNP Id:
rs530378253
ExAC:
20:23028732 C / T
gnomAD v2:
20-23028732-C-T
gnomAD v3:
20-23048095-C-T
gnomAD v4:
20-23048095-C-T
COSMIC:
COSM4733500
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.23048095C>T , CM000682.2:g.23048095C>T | GRCh38 |
| NC_000020.10:g.23028732C>T , CM000682.1:g.23028732C>T | GRCh37 |
| NC_000020.9:g.22976732C>T | NCBI36 |
| NG_012027.1:g.6570G>A , LRG_168:g.6570G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000377103.3:c.1410G>A MANE Select | ENSP00000366307.2:p.Ser470= | |
| ENST00000377103.2:c.1410G>A | ENSP00000366307.2:p.Ser470= | |
| NM_000361.2:c.1410G>A , LRG_168t1:c.1410G>A | NP_000352.1:p.Ser470= | |
| NM_000361.3:c.1410G>A MANE Select | NP_000352.1:p.Ser470= |