Linked Data
dbSNP Id:
rs145938787
ExAC:
4:155526063 C / G
gnomAD v2:
4-155526063-C-G
gnomAD v4:
4-154604911-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154604911C>G , CM000666.2:g.154604911C>G | GRCh38 |
| NC_000004.11:g.155526063C>G , CM000666.1:g.155526063C>G | GRCh37 |
| NC_000004.10:g.155745513C>G | NCBI36 |
| NG_008834.1:g.12840G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336098.8:c.1285G>C MANE Select | ENSP00000336829.3:p.Gly429Arg | |
| ENST00000336098.7:c.1285G>C | ENSP00000336829.3:p.Gly429Arg | |
| ENST00000404648.7:c.1285G>C | ENSP00000384860.3:p.Gly429Arg | |
| ENST00000405164.5:c.1309G>C | ENSP00000384101.1:p.Gly437Arg | |
| ENST00000407946.5:c.1309G>C | ENSP00000384552.1:p.Gly437Arg | |
| ENST00000465913.1:n.833G>C | ||
| ENST00000492082.5:n.1827G>C | ||
| NM_000509.4:c.1285G>C | NP_000500.2:p.Gly429Arg | |
| NM_000509.5:c.1285G>C | NP_000500.2:p.Gly429Arg | |
| NM_021870.2:c.1285G>C | NP_068656.2:p.Gly429Arg | |
| NM_021870.3:c.1285G>C MANE Select | NP_068656.2:p.Gly429Arg | |
| NM_000509.6:c.1285G>C | NP_000500.2:p.Gly429Arg |