Linked Data
ClinVar Variation Id:
308501
ClinVar RCV Id:
RCV000370670
dbSNP Id:
rs575103888
gnomAD v2:
12-32945248-A-C
gnomAD v3:
12-32792314-A-C
gnomAD v4:
12-32792314-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32792314A>C , CM000674.2:g.32792314A>C | GRCh38 |
| NC_000012.11:g.32945248A>C , CM000674.1:g.32945248A>C | GRCh37 |
| NC_000012.10:g.32836515A>C | NCBI36 |
| NG_009000.1:g.109533T>G , LRG_398:g.109533T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700555.2:n.1127T>G | ||
| ENST00000700557.2:n.716T>G | ||
| ENST00000700559.2:c.2434T>G | ENSP00000515065.2:p.Tyr812Asp | |
| ENST00000546498.2:n.1311T>G | ||
| ENST00000549461.2:n.1116T>G | ||
| ENST00000700555.1:c.*110T>G | ENSP00000515062.1:n.*110T>G | |
| ENST00000700556.1:c.1095T>G | ||
| ENST00000700557.1:c.*110T>G | ENSP00000515064.1:n.*110T>G | |
| ENST00000700558.1:n.838T>G | ||
| ENST00000700559.1:c.1649T>G | ||
| ENST00000700560.1:n.1990T>G | ||
| ENST00000070846.11:c.*110T>G | ENSP00000070846.6:n.*110T>G | |
| ENST00000340811.9:c.*110T>G MANE Select | ENSP00000342800.5:n.*110T>G | |
| ENST00000070846.10:c.*110T>G | ENSP00000070846.6:n.*110T>G | |
| ENST00000340811.8:c.*110T>G | ENSP00000342800.4:n.*110T>G | |
| ENST00000546769.1:n.411T>G | ||
| NM_001005242.2:c.*110T>G | NP_001005242.2:n.*110T>G | |
| NM_004572.3:c.*110T>G , LRG_398t1:c.*110T>G | NP_004563.2:n.*110T>G | |
| NM_001005242.3:c.*110T>G MANE Select | NP_001005242.2:n.*110T>G | |
| NM_004572.4:c.*110T>G | NP_004563.2:n.*110T>G |