Linked Data
ClinVar Variation Id:
1774797
ClinVar RCV Id:
RCV002403121
dbSNP Id:
rs375087776
ExAC:
3:8787250 C / G
gnomAD v2:
3-8787250-C-G
gnomAD v3:
3-8745564-C-G
gnomAD v4:
3-8745564-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.8745564C>G , CM000665.2:g.8745564C>G | GRCh38 |
| NC_000003.11:g.8787250C>G , CM000665.1:g.8787250C>G | GRCh37 |
| NC_000003.10:g.8762250C>G | NCBI36 |
| NG_008797.2:g.16755C>G , LRG_329:g.16755C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000343849.3:c.153C>G MANE Select | ENSP00000341940.2:p.Thr51= | |
| ENST00000343849.2:c.153C>G | ENSP00000341940.2:p.Thr51= | |
| ENST00000397368.2:c.153C>G | ENSP00000380525.2:p.Thr51= | |
| ENST00000472766.1:n.155+11574C>G | ||
| NM_001234.4:c.153C>G | NP_001225.1:p.Thr51= | |
| NM_033337.2:c.153C>G , LRG_329t1:c.153C>G | NP_203123.1:p.Thr51= | |
| NM_001234.5:c.153C>G | NP_001225.1:p.Thr51= | |
| NM_033337.3:c.153C>G MANE Select | NP_203123.1:p.Thr51= |