Linked Data
ClinVar Variation Id:
539716
dbSNP Id:
rs1461907039
gnomAD v2:
3-128200075-C-A
gnomAD v3:
3-128481232-C-A
gnomAD v4:
3-128481232-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.128481232C>A , CM000665.2:g.128481232C>A | GRCh38 |
| NC_000003.11:g.128200075C>A , CM000665.1:g.128200075C>A | GRCh37 |
| NC_000003.10:g.129682765C>A | NCBI36 |
| NG_029334.1:g.16956G>T , LRG_295:g.16956G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000487848.6:c.1230G>T MANE Plus Clinical | ENSP00000417074.1:p.Gly410= | |
| ENST00000696466.1:c.1512G>T | ENSP00000512647.1:p.Gly504= | |
| ENST00000696672.1:c.205G>T | ENSP00000512796.1:p.Gly69Cys | |
| ENST00000341105.7:c.1230G>T MANE Select | ENSP00000345681.2:p.Gly410= | |
| ENST00000341105.6:c.1230G>T | ENSP00000345681.2:p.Gly410= | |
| ENST00000430265.6:c.1188G>T | ENSP00000400259.2:p.Gly396= | |
| ENST00000487848.5:c.1230G>T | ENSP00000417074.1:p.Gly410= | |
| ENST00000489987.1:n.347G>T | ||
| NM_001145661.1:c.1230G>T , LRG_295t1:c.1230G>T | NP_001139133.1:p.Gly410= | |
| NM_001145662.1:c.1188G>T | NP_001139134.1:p.Gly396= | |
| NM_032638.4:c.1230G>T , LRG_295t2:c.1230G>T | NP_116027.2:p.Gly410= | |
| NM_001145661.2:c.1230G>T MANE Plus Clinical | NP_001139133.1:p.Gly410= | |
| NM_032638.5:c.1230G>T MANE Select | NP_116027.2:p.Gly410= |