Linked Data
dbSNP Id:
rs35730308
ExAC:
7:87138758 A / G
gnomAD v2:
7-87138758-A-G
gnomAD v3:
7-87509442-A-G
gnomAD v4:
7-87509442-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.87509442A>G , CM000669.2:g.87509442A>G | GRCh38 |
| NC_000007.13:g.87138758A>G , CM000669.1:g.87138758A>G | GRCh37 |
| NC_000007.12:g.86976694A>G | NCBI36 |
| NG_011513.1:g.208807T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265724.8:c.3322T>C | ENSP00000265724.3:p.Trp1108Arg | |
| ENST00000622132.5:c.3322T>C MANE Select | ENSP00000478255.1:p.Trp1108Arg | |
| ENST00000265724.7:c.3322T>C | ENSP00000265724.3:p.Trp1108Arg | |
| ENST00000475929.5:n.478T>C | ||
| ENST00000488737.6:n.964T>C | ||
| ENST00000543898.5:c.3130T>C | ENSP00000444095.1:p.Trp1044Arg | |
| ENST00000622132.4:c.3322T>C | ENSP00000478255.1:p.Trp1108Arg | |
| NM_000927.4:c.3322T>C | NP_000918.2:p.Trp1108Arg | |
| NM_001348944.1:c.3322T>C | NP_001335873.1:p.Trp1108Arg | |
| NM_001348945.1:c.3532T>C | NP_001335874.1:p.Trp1178Arg | |
| NM_001348946.1:c.3322T>C | NP_001335875.1:p.Trp1108Arg | |
| NM_001348946.2:c.3322T>C MANE Select | NP_001335875.1:p.Trp1108Arg | |
| NM_000927.5:c.3322T>C | NP_000918.2:p.Trp1108Arg | |
| NM_001348944.2:c.3322T>C | NP_001335873.1:p.Trp1108Arg | |
| NM_001348945.2:c.3532T>C | NP_001335874.1:p.Trp1178Arg |