Linked Data
ClinVar Variation Id:
2084569
ClinVar RCV Id:
RCV003011204
dbSNP Id:
rs1244303448
gnomAD v2:
12-32945675-A-G
gnomAD v3:
12-32792741-A-G
gnomAD v4:
12-32792741-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32792741A>G , CM000674.2:g.32792741A>G | GRCh38 |
| NC_000012.11:g.32945675A>G , CM000674.1:g.32945675A>G | GRCh37 |
| NC_000012.10:g.32836942A>G | NCBI36 |
| NG_009000.1:g.109106T>C , LRG_398:g.109106T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700555.2:n.861-10T>C | ||
| ENST00000700557.2:n.450-10T>C | ||
| ENST00000700559.2:c.2168-10T>C | ENSP00000515065.2:n.2168-10T>C | |
| ENST00000546498.2:n.1045-10T>C | ||
| ENST00000549461.2:n.850-10T>C | ||
| ENST00000700555.1:c.789-10T>C | ENSP00000515062.1:n.789-10T>C | |
| ENST00000700556.1:c.829-10T>C | ||
| ENST00000700557.1:c.369-10T>C | ENSP00000515064.1:n.369-10T>C | |
| ENST00000700558.1:n.572-10T>C | ||
| ENST00000700559.1:c.1383-10T>C | ||
| ENST00000700560.1:n.1573-10T>C | ||
| ENST00000070846.11:c.2490-10T>C | ENSP00000070846.6:n.2490-10T>C | |
| ENST00000340811.9:c.2358-10T>C MANE Select | ENSP00000342800.5:n.2358-10T>C | |
| ENST00000070846.10:c.2490-10T>C | ENSP00000070846.6:n.2490-10T>C | |
| ENST00000340811.8:c.2358-10T>C | ENSP00000342800.4:n.2358-10T>C | |
| ENST00000546769.1:n.135T>C | ||
| ENST00000613243.1:c.2488-10T>C | ENSP00000478295.1:n.2488-10T>C | |
| NM_001005242.2:c.2358-10T>C | NP_001005242.2:n.2358-10T>C | |
| NM_004572.3:c.2490-10T>C , LRG_398t1:c.2490-10T>C | NP_004563.2:n.2490-10T>C | |
| NM_001005242.3:c.2358-10T>C MANE Select | NP_001005242.2:n.2358-10T>C | |
| NM_004572.4:c.2490-10T>C | NP_004563.2:n.2490-10T>C |