Linked Data
ClinVar Variation Id:
2585687
ClinVar RCV Id:
RCV003368082
dbSNP Id:
rs1397786003
gnomAD v2:
1-116311102-C-T
gnomAD v4:
1-115768481-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115768481C>T , CM000663.2:g.115768481C>T | GRCh38 |
| NC_000001.10:g.116311102C>T , CM000663.1:g.116311102C>T | GRCh37 |
| NC_000001.9:g.116112625C>T | NCBI36 |
| NG_008802.1:g.5325G>A , LRG_404:g.5325G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000488931.2:c.-216G>A | ENSP00000518226.1:n.-216G>A | |
| ENST00000261448.6:c.61G>A MANE Select | ENSP00000261448.5:p.Glu21Lys | |
| ENST00000261448.5:c.61G>A | ENSP00000261448.5:p.Glu21Lys | |
| NM_001232.3:c.61G>A , LRG_404t1:c.61G>A | NP_001223.2:p.Glu21Lys | |
| NM_001232.4:c.61G>A MANE Select | NP_001223.2:p.Glu21Lys |