Linked Data
ClinVar Variation Id:
598585
ClinVar RCV Id:
RCV000735014
dbSNP Id:
rs756482190
ExAC:
10:101605439 G / C
gnomAD v2:
10-101605439-G-C
gnomAD v4:
10-99845682-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99845682G>C , CM000672.2:g.99845682G>C | GRCh38 |
| NC_000010.10:g.101605439G>C , CM000672.1:g.101605439G>C | GRCh37 |
| NC_000010.9:g.101595429G>C | NCBI36 |
| NG_011798.1:g.67977G>C | |
| NG_011798.2:g.68085G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647814.1:c.4046G>C MANE Select | ENSP00000497274.1:p.Arg1349Thr | |
| ENST00000649459.1:n.394G>C | ||
| ENST00000370449.8:c.4046G>C | ENSP00000359478.4:p.Arg1349Thr | |
| NM_000392.4:c.4046G>C | NP_000383.1:p.Arg1349Thr | |
| XM_006717630.2:c.3350G>C | XP_006717693.1:p.Arg1117Thr | |
| XR_945604.1:n.4177-1G>C | ||
| XR_945605.1:n.4110G>C | ||
| NM_000392.5:c.4046G>C MANE Select | NP_000383.2:p.Arg1349Thr | |
| XM_006717630.3:c.3350G>C | XP_006717693.1:p.Arg1117Thr | |
| XR_945604.3:n.4231-1G>C | ||
| XR_945605.3:n.4162G>C |