Linked Data
ClinVar Variation Id:
206588
dbSNP Id:
rs769410130
gnomAD v2:
15-89872282-G-C
gnomAD v3:
15-89329051-G-C
gnomAD v4:
15-89329051-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89329051G>C , CM000677.2:g.89329051G>C | GRCh38 |
| NC_000015.9:g.89872282G>C , CM000677.1:g.89872282G>C | GRCh37 |
| NC_000015.8:g.87673286G>C | NCBI36 |
| NG_008218.1:g.10745C>G | |
| NG_008218.2:g.10745C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.915C>G | ENSP00000516154.1:p.Ser305Arg | |
| ENST00000268124.11:c.915C>G MANE Select | ENSP00000268124.5:p.Ser305Arg | |
| ENST00000530292.3:c.516C>G | ENSP00000432885.2:p.Ser172Arg | |
| ENST00000635986.2:c.915C>G | ENSP00000490653.2:p.Ser305Arg | |
| ENST00000636774.1:c.915C>G | ENSP00000489799.1:p.Ser305Arg | |
| ENST00000666746.1:c.572C>G | ||
| ENST00000672071.1:n.1113C>G | ||
| ENST00000268124.9:c.915C>G | ENSP00000268124.5:p.Ser305Arg | |
| ENST00000442287.6:c.915C>G | ENSP00000399851.2:p.Ser305Arg | |
| ENST00000631044.2:c.*298C>G | ENSP00000486730.1:n.*298C>G | |
| NM_001126131.1:c.915C>G | NP_001119603.1:p.Ser305Arg | |
| NM_002693.2:c.915C>G | NP_002684.1:p.Ser305Arg | |
| NM_001126131.2:c.915C>G | NP_001119603.1:p.Ser305Arg | |
| NM_002693.3:c.915C>G MANE Select | NP_002684.1:p.Ser305Arg |