Linked Data
ClinVar Variation Id:
1056831
ClinVar RCV Id:
RCV001365715
dbSNP Id:
rs2136702072
COSMIC:
COSM1561881
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102894887G>C , CM000674.2:g.102894887G>C | GRCh38 |
| NC_000012.11:g.103288665G>C , CM000674.1:g.103288665G>C | GRCh37 |
| NC_000012.10:g.101812795G>C | NCBI36 |
| NG_008690.1:g.27716C>G | |
| NG_008690.2:g.68524C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.200C>G MANE Select | ENSP00000448059.1:p.Ser67Cys | |
| ENST00000307000.7:c.185C>G | ENSP00000303500.2:p.Ser62Cys | |
| ENST00000546844.1:c.200C>G | ENSP00000446658.1:p.Ser67Cys | |
| ENST00000548677.2:n.287C>G | ||
| ENST00000548928.1:n.122C>G | ||
| ENST00000549111.5:n.296C>G | ||
| ENST00000550978.6:c.184C>G | ||
| ENST00000551337.5:c.200C>G | ENSP00000447620.1:p.Ser67Cys | |
| ENST00000551988.5:n.289C>G | ||
| ENST00000553106.5:c.200C>G | ENSP00000448059.1:p.Ser67Cys | |
| ENST00000635500.1:n.168C>G | ||
| NM_000277.1:c.200C>G | NP_000268.1:p.Ser67Cys | |
| XM_011538422.1:c.200C>G | XP_011536724.1:p.Ser67Cys | |
| NM_000277.2:c.200C>G | NP_000268.1:p.Ser67Cys | |
| NM_001354304.1:c.200C>G | NP_001341233.1:p.Ser67Cys | |
| XM_017019370.2:c.200C>G | XP_016874859.1:p.Ser67Cys | |
| NM_000277.3:c.200C>G MANE Select | NP_000268.1:p.Ser67Cys | |
| NM_001354304.2:c.200C>G | NP_001341233.1:p.Ser67Cys |