Linked Data
ClinVar Variation Id:
883981
dbSNP Id:
rs528078207
ExAC:
12:103288585 T / C
gnomAD v2:
12-103288585-T-C
gnomAD v3:
12-102894807-T-C
gnomAD v4:
12-102894807-T-C
ERepo:
CA6748988/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102894807T>C , CM000674.2:g.102894807T>C | GRCh38 |
| NC_000012.11:g.103288585T>C , CM000674.1:g.103288585T>C | GRCh37 |
| NC_000012.10:g.101812715T>C | NCBI36 |
| NG_008690.1:g.27796A>G | |
| NG_008690.2:g.68604A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.280A>G MANE Select | ENSP00000448059.1:p.Ile94Val | |
| ENST00000307000.7:c.265A>G | ENSP00000303500.2:p.Ile89Val | |
| ENST00000546844.1:c.280A>G | ENSP00000446658.1:p.Ile94Val | |
| ENST00000548677.2:n.367A>G | ||
| ENST00000548928.1:n.202A>G | ||
| ENST00000549111.5:n.376A>G | ||
| ENST00000550978.6:c.264A>G | ||
| ENST00000551337.5:c.280A>G | ENSP00000447620.1:p.Ile94Val | |
| ENST00000551988.5:n.369A>G | ||
| ENST00000553106.5:c.280A>G | ENSP00000448059.1:p.Ile94Val | |
| NM_000277.1:c.280A>G | NP_000268.1:p.Ile94Val | |
| XM_011538422.1:c.280A>G | XP_011536724.1:p.Ile94Val | |
| NM_000277.2:c.280A>G | NP_000268.1:p.Ile94Val | |
| NM_001354304.1:c.280A>G | NP_001341233.1:p.Ile94Val | |
| XM_017019370.2:c.280A>G | XP_016874859.1:p.Ile94Val | |
| NM_000277.3:c.280A>G MANE Select | NP_000268.1:p.Ile94Val | |
| NM_001354304.2:c.280A>G | NP_001341233.1:p.Ile94Val |