Linked Data
ClinVar Variation Id:
5322
ClinVar RCV Id:
RCV000005648
dbSNP Id:
rs121917837
ExAC:
10:71332481 G / T
gnomAD v2:
10-71332481-G-T
gnomAD v3:
10-69572725-G-T
gnomAD v4:
10-69572725-G-T
PubMed:
PMID:16855267
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.69572725G>T , CM000672.2:g.69572725G>T | GRCh38 |
| NC_000010.10:g.71332481G>T , CM000672.1:g.71332481G>T | GRCh37 |
| NC_000010.9:g.71002487G>T | NCBI36 |
| NG_021321.1:g.5730C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000242462.5:c.319C>A MANE Select | ENSP00000242462.4:p.Arg107Ser | |
| ENST00000242462.4:c.319C>A | ENSP00000242462.4:p.Arg107Ser | |
| NM_020999.3:c.319C>A | NP_066279.2:p.Arg107Ser | |
| XM_017016280.1:c.319C>A | XP_016871769.1:p.Arg107Ser | |
| NM_020999.4:c.319C>A MANE Select | NP_066279.2:p.Arg107Ser |