Linked Data
dbSNP Id:
rs200870777
ExAC:
7:87179792 C / T
gnomAD v2:
7-87179792-C-T
gnomAD v4:
7-87550476-C-T
COSMIC:
COSM5408178
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.87550476C>T , CM000669.2:g.87550476C>T | GRCh38 |
| NC_000007.13:g.87179792C>T , CM000669.1:g.87179792C>T | GRCh37 |
| NC_000007.12:g.87017728C>T | NCBI36 |
| NG_011513.1:g.167773G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265724.8:c.1216G>A | ENSP00000265724.3:p.Glu406Lys | |
| ENST00000622132.5:c.1216G>A MANE Select | ENSP00000478255.1:p.Glu406Lys | |
| ENST00000265724.7:c.1216G>A | ENSP00000265724.3:p.Glu406Lys | |
| ENST00000543898.5:c.1024G>A | ENSP00000444095.1:p.Glu342Lys | |
| ENST00000622132.4:c.1216G>A | ENSP00000478255.1:p.Glu406Lys | |
| NM_000927.4:c.1216G>A | NP_000918.2:p.Glu406Lys | |
| NM_001348944.1:c.1216G>A | NP_001335873.1:p.Glu406Lys | |
| NM_001348945.1:c.1426G>A | NP_001335874.1:p.Glu476Lys | |
| NM_001348946.1:c.1216G>A | NP_001335875.1:p.Glu406Lys | |
| NM_001348946.2:c.1216G>A MANE Select | NP_001335875.1:p.Glu406Lys | |
| NM_000927.5:c.1216G>A | NP_000918.2:p.Glu406Lys | |
| NM_001348944.2:c.1216G>A | NP_001335873.1:p.Glu406Lys | |
| NM_001348945.2:c.1426G>A | NP_001335874.1:p.Glu476Lys |