Linked Data
ClinVar Variation Id:
1951019
ClinVar RCV Id:
RCV002681670
dbSNP Id:
rs1356336963
gnomAD v2:
12-32945567-C-T
gnomAD v3:
12-32792633-C-T
gnomAD v4:
12-32792633-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32792633C>T , CM000674.2:g.32792633C>T | GRCh38 |
| NC_000012.11:g.32945567C>T , CM000674.1:g.32945567C>T | GRCh37 |
| NC_000012.10:g.32836834C>T | NCBI36 |
| NG_009000.1:g.109214G>A , LRG_398:g.109214G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700555.2:n.948+11G>A | ||
| ENST00000700557.2:n.537+11G>A | ||
| ENST00000700559.2:c.2255+11G>A | ENSP00000515065.2:n.2255+11G>A | |
| ENST00000546498.2:n.1132+11G>A | ||
| ENST00000549461.2:n.937+11G>A | ||
| ENST00000700555.1:c.876+11G>A | ENSP00000515062.1:n.876+11G>A | |
| ENST00000700556.1:c.916+11G>A | ||
| ENST00000700557.1:c.456+11G>A | ENSP00000515064.1:n.456+11G>A | |
| ENST00000700558.1:n.659+11G>A | ||
| ENST00000700559.1:c.1470+11G>A | ||
| ENST00000700560.1:n.1671G>A | ||
| ENST00000070846.11:c.2577+11G>A | ENSP00000070846.6:n.2577+11G>A | |
| ENST00000340811.9:c.2445+11G>A MANE Select | ENSP00000342800.5:n.2445+11G>A | |
| ENST00000070846.10:c.2577+11G>A | ENSP00000070846.6:n.2577+11G>A | |
| ENST00000340811.8:c.2445+11G>A | ENSP00000342800.4:n.2445+11G>A | |
| ENST00000546769.1:n.232+11G>A | ||
| ENST00000613243.1:c.2575+11G>A | ENSP00000478295.1:n.2575+11G>A | |
| NM_001005242.2:c.2445+11G>A | NP_001005242.2:n.2445+11G>A | |
| NM_004572.3:c.2577+11G>A , LRG_398t1:c.2577+11G>A | NP_004563.2:n.2577+11G>A | |
| NM_001005242.3:c.2445+11G>A MANE Select | NP_001005242.2:n.2445+11G>A | |
| NM_004572.4:c.2577+11G>A | NP_004563.2:n.2577+11G>A |