Linked Data
dbSNP Id:
rs200155994
ExAC:
7:87165789 A / C
gnomAD v2:
7-87165789-A-C
gnomAD v3:
7-87536473-A-C
gnomAD v4:
7-87536473-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.87536473A>C , CM000669.2:g.87536473A>C | GRCh38 |
| NC_000007.13:g.87165789A>C , CM000669.1:g.87165789A>C | GRCh37 |
| NC_000007.12:g.87003725A>C | NCBI36 |
| NG_011513.1:g.181776T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265724.8:c.2466T>G | ENSP00000265724.3:p.Ala822= | |
| ENST00000622132.5:c.2466T>G MANE Select | ENSP00000478255.1:p.Ala822= | |
| ENST00000265724.7:c.2466T>G | ENSP00000265724.3:p.Ala822= | |
| ENST00000496821.5:n.94T>G | ||
| ENST00000543898.5:c.2274T>G | ENSP00000444095.1:p.Ala758= | |
| ENST00000622132.4:c.2466T>G | ENSP00000478255.1:p.Ala822= | |
| NM_000927.4:c.2466T>G | NP_000918.2:p.Ala822= | |
| NM_001348944.1:c.2466T>G | NP_001335873.1:p.Ala822= | |
| NM_001348945.1:c.2676T>G | NP_001335874.1:p.Ala892= | |
| NM_001348946.1:c.2466T>G | NP_001335875.1:p.Ala822= | |
| NM_001348946.2:c.2466T>G MANE Select | NP_001335875.1:p.Ala822= | |
| NM_000927.5:c.2466T>G | NP_000918.2:p.Ala822= | |
| NM_001348944.2:c.2466T>G | NP_001335873.1:p.Ala822= | |
| NM_001348945.2:c.2676T>G | NP_001335874.1:p.Ala892= |