Linked Data
ClinVar Variation Id:
139519
dbSNP Id:
rs16984852
ExAC:
20:23030292 C / A
gnomAD v2:
20-23030292-C-A
gnomAD v3:
20-23049655-C-A
gnomAD v4:
20-23049655-C-A
PubMed:
PMID:23332921
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.23049655C>A , CM000682.2:g.23049655C>A | GRCh38 |
| NC_000020.10:g.23030292C>A , CM000682.1:g.23030292C>A | GRCh37 |
| NC_000020.9:g.22978292C>A | NCBI36 |
| NG_012027.1:g.5010G>T , LRG_168:g.5010G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000377103.3:c.-151G>T MANE Select | ENSP00000366307.2:n.-151G>T | |
| ENST00000377103.2:c.-151G>T | ENSP00000366307.2:n.-151G>T | |
| NM_000361.2:c.-151G>T , LRG_168t1:c.-151G>T | NP_000352.1:n.-151G>T | |
| NM_000361.3:c.-151G>T MANE Select | NP_000352.1:n.-151G>T |