Linked Data
ClinVar Variation Id:
987909
ClinVar RCV Id:
RCV001269315
dbSNP Id:
rs1221031352
gnomAD v3:
12-102844431-T-C
gnomAD v4:
12-102844431-T-C
ERepo:
CA16020911/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102844431T>C , CM000674.2:g.102844431T>C | GRCh38 |
| NC_000012.11:g.103238209T>C , CM000674.1:g.103238209T>C | GRCh37 |
| NC_000012.10:g.101762339T>C | NCBI36 |
| NG_008690.1:g.78172A>G | |
| NG_008690.2:g.118980A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.970A>G MANE Select | ENSP00000448059.1:p.Ile324Val | |
| ENST00000307000.7:c.955A>G | ENSP00000303500.2:p.Ile319Val | |
| ENST00000549247.6:n.729A>G | ||
| ENST00000551114.2:n.632A>G | ||
| ENST00000553106.5:c.970A>G | ENSP00000448059.1:p.Ile324Val | |
| ENST00000635477.1:c.74A>G | ||
| ENST00000635528.1:n.485A>G | ||
| NM_000277.1:c.970A>G | NP_000268.1:p.Ile324Val | |
| XM_011538422.1:c.913A>G | XP_011536724.1:p.Ile305Val | |
| NM_000277.2:c.970A>G | NP_000268.1:p.Ile324Val | |
| NM_001354304.1:c.970A>G | NP_001341233.1:p.Ile324Val | |
| NM_000277.3:c.970A>G MANE Select | NP_000268.1:p.Ile324Val | |
| NM_001354304.2:c.970A>G | NP_001341233.1:p.Ile324Val |