Linked Data
ClinVar Variation Id:
284953
dbSNP Id:
rs775206410
ExAC:
15:48818335 C / G
gnomAD v2:
15-48818335-C-G
gnomAD v3:
15-48526138-C-G
gnomAD v4:
15-48526138-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48526138C>G , CM000677.2:g.48526138C>G | GRCh38 |
| NC_000015.9:g.48818335C>G , CM000677.1:g.48818335C>G | GRCh37 |
| NC_000015.8:g.46605627C>G | NCBI36 |
| NG_008805.2:g.124651G>C , LRG_778:g.124651G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.980G>C | ENSP00000453958.2:p.Arg327Thr | |
| ENST00000674301.2:c.980G>C | ENSP00000501333.2:p.Arg327Thr | |
| ENST00000316623.10:c.980G>C MANE Select | ENSP00000325527.5:p.Arg327Thr | |
| ENST00000316623.9:c.980G>C | ENSP00000325527.5:p.Arg327Thr | |
| ENST00000537463.6:c.636+11573G>C | ENSP00000440294.2:n.636+11573G>C | |
| NM_000138.4:c.980G>C , LRG_778t1:c.980G>C | NP_000129.3:p.Arg327Thr | |
| NM_000138.5:c.980G>C MANE Select | NP_000129.3:p.Arg327Thr |