Linked Data
ClinVar Variation Id:
12718
dbSNP Id:
rs1800576
ExAC:
20:23030015 C / T
gnomAD v2:
20-23030015-C-T
gnomAD v3:
20-23049378-C-T
gnomAD v4:
20-23049378-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.23049378C>T , CM000682.2:g.23049378C>T | GRCh38 |
| NC_000020.10:g.23030015C>T , CM000682.1:g.23030015C>T | GRCh37 |
| NC_000020.9:g.22978015C>T | NCBI36 |
| NG_012027.1:g.5287G>A , LRG_168:g.5287G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000377103.3:c.127G>A MANE Select | ENSP00000366307.2:p.Ala43Thr | |
| ENST00000377103.2:c.127G>A | ENSP00000366307.2:p.Ala43Thr | |
| NM_000361.2:c.127G>A , LRG_168t1:c.127G>A | NP_000352.1:p.Ala43Thr | |
| NM_000361.3:c.127G>A MANE Select | NP_000352.1:p.Ala43Thr |