Linked Data
ClinVar Variation Id:
1047360
ClinVar RCV Id:
RCV001352061
dbSNP Id:
rs747863360
ExAC:
17:16852246 C / G
gnomAD v2:
17-16852246-C-G
gnomAD v3:
17-16948932-C-G
gnomAD v4:
17-16948932-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.16948932C>G , CM000679.2:g.16948932C>G | GRCh38 |
| NC_000017.10:g.16852246C>G , CM000679.1:g.16852246C>G | GRCh37 |
| NC_000017.9:g.16792971C>G | NCBI36 |
| NG_007281.1:g.28157G>C , LRG_120:g.28157G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261652.7:c.251G>C MANE Select | ENSP00000261652.2:p.Arg84Thr | |
| ENST00000261652.6:c.251G>C | ENSP00000261652.2:p.Arg84Thr | |
| ENST00000579315.5:c.251G>C | ENSP00000464069.1:p.Arg84Thr | |
| ENST00000581616.2:n.254G>C | ||
| ENST00000582931.5:n.155G>C | ||
| ENST00000583789.1:c.113G>C | ENSP00000462952.1:p.Arg38Thr | |
| ENST00000584950.5:c.113G>C | ENSP00000463582.1:p.Arg38Thr | |
| NM_012452.2:c.251G>C , LRG_120t1:c.251G>C | NP_036584.1:p.Arg84Thr | |
| NM_012452.3:c.251G>C MANE Select | NP_036584.1:p.Arg84Thr |