Linked Data
ClinVar Variation Id:
858122
dbSNP Id:
rs1406489908
gnomAD v2:
1-145518224-G-A
gnomAD v3:
1-145916865-C-T
gnomAD v4:
1-145916865-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.145916865C>T , CM000663.2:g.145916865C>T | GRCh38 |
| NC_000001.10:g.145518224G>A , CM000663.1:g.145518224G>A | GRCh37 |
| NC_000001.9:g.144229581G>A | NCBI36 |
| NG_032654.2:g.15672G>A , LRG_574:g.15672G>A | |
| NG_033000.3:g.7060G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369306.8:c.326G>A MANE Select | ENSP00000358312.3:p.Gly109Glu | |
| ENST00000369306.7:c.326G>A | ENSP00000358312.3:p.Gly109Glu | |
| ENST00000537888.1:c.284G>A | ENSP00000437510.1:p.Gly95Glu | |
| NM_001184795.1:c.284G>A | NP_001171724.1:p.Gly95Glu | |
| NM_003846.2:c.326G>A | NP_003837.1:p.Gly109Glu | |
| NR_073491.1:n.558G>A | ||
| NR_073492.1:n.552G>A | ||
| NR_073493.2:n.774G>A | ||
| NM_003846.3:c.326G>A MANE Select | NP_003837.1:p.Gly109Glu | |
| NR_073491.2:n.351G>A | ||
| NR_073492.2:n.345G>A |