Linked Data
ClinVar Variation Id:
292122
dbSNP Id:
rs7521023
gnomAD v2:
1-116243380-G-A
gnomAD v3:
1-115700759-G-A
gnomAD v4:
1-115700759-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115700759G>A , CM000663.2:g.115700759G>A | GRCh38 |
| NC_000001.10:g.116243380G>A , CM000663.1:g.116243380G>A | GRCh37 |
| NC_000001.9:g.116044903G>A | NCBI36 |
| NG_008802.1:g.73047C>T , LRG_404:g.73047C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000488931.2:c.*1054C>T | ENSP00000518226.1:n.*1054C>T | |
| ENST00000261448.6:c.*482C>T MANE Select | ENSP00000261448.5:n.*482C>T | |
| ENST00000261448.5:c.*482C>T | ENSP00000261448.5:n.*482C>T | |
| NM_001232.3:c.*482C>T , LRG_404t1:c.*482C>T | NP_001223.2:n.*482C>T | |
| NM_001232.4:c.*482C>T MANE Select | NP_001223.2:n.*482C>T |