Linked Data
dbSNP Id:
rs759909930
ExAC:
14:80669349 C / G
gnomAD v2:
14-80669349-C-G
gnomAD v4:
14-80203006-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.80203006C>G , CM000676.2:g.80203006C>G | GRCh38 |
| NC_000014.8:g.80669349C>G , CM000676.1:g.80669349C>G | GRCh37 |
| NC_000014.7:g.79739102C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000438257.9:c.505G>C MANE Select | ENSP00000405854.5:p.Gly169Arg | |
| ENST00000555750.2:c.*343G>C | ENSP00000450980.2:n.*343G>C | |
| ENST00000422005.7:c.*306G>C | ENSP00000411438.4:n.*306G>C | |
| ENST00000438257.8:c.505G>C | ENSP00000405854.4:p.Gly169Arg | |
| ENST00000555750.1:c.613G>C | ENSP00000450980.1:p.Gly205Arg | |
| ENST00000555844.1:c.589G>C | ||
| ENST00000556811.5:c.481G>C | ||
| ENST00000557010.5:c.505G>C | ENSP00000451419.1:p.Gly169Arg | |
| ENST00000557125.1:c.129G>C | ENSP00000450547.1:p.Met43Ile | |
| NM_000793.5:c.505G>C | NP_000784.2:p.Gly169Arg | |
| NM_001007023.3:c.613G>C | NP_001007024.1:p.Gly205Arg | |
| NM_001242502.1:c.*306G>C | NP_001229431.1:n.*306G>C | |
| NM_001242503.1:c.*306G>C | NP_001229432.1:n.*306G>C | |
| NM_013989.4:c.505G>C | NP_054644.1:p.Gly169Arg | |
| NM_000793.6:c.505G>C | NP_000784.3:p.Gly169Arg | |
| NM_001324462.2:c.505G>C | NP_001311391.2:p.Gly169Arg | |
| NM_001366496.1:c.505G>C | NP_001353425.1:p.Gly169Arg | |
| NM_013989.5:c.505G>C MANE Select | NP_054644.1:p.Gly169Arg | |
| NR_158990.1:n.645G>C | ||
| NR_158991.1:n.779G>C |