Linked Data
ClinVar Variation Id:
347562
dbSNP Id:
rs138534367
ExAC:
4:140375484 C / G
gnomAD v2:
4-140375484-C-G
gnomAD v3:
4-139454330-C-G
gnomAD v4:
4-139454330-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.139454330C>G , CM000666.2:g.139454330C>G | GRCh38 |
| NC_000004.11:g.140375484C>G , CM000666.1:g.140375484C>G | GRCh37 |
| NC_000004.10:g.140594934C>G | NCBI36 |
| NG_051587.1:g.6099C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305626.6:c.135C>G MANE Select | ENSP00000306496.5:p.Gly45= | |
| ENST00000652268.1:c.279C>G | ENSP00000498778.1:p.Gly93= | |
| ENST00000305626.5:c.135C>G | ENSP00000306496.5:p.Gly45= | |
| NM_031296.1:c.135C>G | NP_112586.1:p.Gly45= | |
| XM_011532299.1:c.279C>G | XP_011530601.1:p.Gly93= | |
| NM_031296.2:c.135C>G | NP_112586.1:p.Gly45= | |
| NM_031296.3:c.135C>G MANE Select | NP_112586.1:p.Gly45= |