Linked Data
ClinVar Variation Id:
194187
dbSNP Id:
rs1128503
ExAC:
7:87179601 A / G
gnomAD v2:
7-87179601-A-G
gnomAD v3:
7-87550285-A-G
gnomAD v4:
7-87550285-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.87550285A>G , CM000669.2:g.87550285A>G | GRCh38 |
| NC_000007.13:g.87179601A>G , CM000669.1:g.87179601A>G | GRCh37 |
| NC_000007.12:g.87017537A>G | NCBI36 |
| NG_011513.1:g.167964T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265724.8:c.1236T>C | ENSP00000265724.3:p.Gly412= | |
| ENST00000622132.5:c.1236T>C MANE Select | ENSP00000478255.1:p.Gly412= | |
| ENST00000265724.7:c.1236T>C | ENSP00000265724.3:p.Gly412= | |
| ENST00000543898.5:c.1044T>C | ENSP00000444095.1:p.Gly348= | |
| ENST00000622132.4:c.1236T>C | ENSP00000478255.1:p.Gly412= | |
| NM_000927.4:c.1236T>C | NP_000918.2:p.Gly412= | |
| NM_001348944.1:c.1236T>C | NP_001335873.1:p.Gly412= | |
| NM_001348945.1:c.1446T>C | NP_001335874.1:p.Gly482= | |
| NM_001348946.1:c.1236T>C | NP_001335875.1:p.Gly412= | |
| NM_001348946.2:c.1236T>C MANE Select | NP_001335875.1:p.Gly412= | |
| NM_000927.5:c.1236T>C | NP_000918.2:p.Gly412= | |
| NM_001348944.2:c.1236T>C | NP_001335873.1:p.Gly412= | |
| NM_001348945.2:c.1446T>C | NP_001335874.1:p.Gly482= |