Linked Data
ClinVar Variation Id:
167876
ClinVar RCV Id:
RCV000154192
dbSNP Id:
rs193303103
ExAC:
7:144097225 C / G
gnomAD v2:
7-144097225-C-G
gnomAD v3:
7-144400132-C-G
gnomAD v4:
7-144400132-C-G
PubMed:
PMID:21837770
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.144400132C>G , CM000669.2:g.144400132C>G | GRCh38 |
| NC_000007.13:g.144097225C>G , CM000669.1:g.144097225C>G | GRCh37 |
| NC_000007.12:g.143728158C>G | NCBI36 |
| NG_028979.1:g.15096G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000643164.1:c.144+74G>C | ENSP00000495343.1:n.144+74G>C | |
| ENST00000645489.1:c.696+74G>C | ENSP00000496732.1:n.696+74G>C | |
| ENST00000467773.1:c.1025G>C MANE Select | ENSP00000419457.1:p.Ser342Thr | |
| ENST00000483238.5:c.951+74G>C | ENSP00000419565.1:n.951+74G>C | |
| NM_001080413.3:c.1025G>C MANE Select | NP_001073882.3:p.Ser342Thr | |
| XM_011515791.1:c.696+74G>C | XP_011514093.1:n.696+74G>C | |
| XM_017011742.2:c.951+74G>C | XP_016867231.1:n.951+74G>C |