Linked Data
ClinVar Variation Id:
91252
dbSNP Id:
rs12476364
COSMIC:
COSM5967451
PubMed:
PMID:11151427
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47416295G>A , CM000664.2:g.47416295G>A | GRCh38 |
| NC_000002.11:g.47643434G>A , CM000664.1:g.47643434G>A | GRCh37 |
| NC_000002.10:g.47496938G>A | NCBI36 |
| NG_007110.2:g.18172G>A , LRG_218:g.18172G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644900.2:c.943-1G>A | ENSP00000495641.2:n.943-1G>A | |
| ENST00000233146.7:c.943-1G>A MANE Select | ENSP00000233146.2:n.943-1G>A | |
| ENST00000543555.6:c.745-1G>A | ENSP00000442697.1:n.745-1G>A | |
| ENST00000644092.1:c.943-1G>A | ENSP00000496351.1:n.943-1G>A | |
| ENST00000645339.1:c.943-1G>A | ENSP00000496441.1:n.943-1G>A | |
| ENST00000645506.1:c.943-1G>A | ENSP00000495455.1:n.943-1G>A | |
| ENST00000646415.1:c.943-1G>A | ENSP00000495543.1:n.943-1G>A | |
| ENST00000233146.6:c.943-1G>A | ENSP00000233146.2:n.943-1G>A | |
| ENST00000406134.5:c.943-1G>A | ENSP00000384199.1:n.943-1G>A | |
| ENST00000543555.5:c.745-1G>A | ENSP00000442697.1:n.745-1G>A | |
| ENST00000610696.4:c.943-1G>A | ENSP00000483159.1:n.943-1G>A | |
| ENST00000613514.4:c.943-1G>A | ENSP00000484137.1:n.943-1G>A | |
| ENST00000617333.3:c.943-1G>A | ENSP00000482468.1:n.943-1G>A | |
| ENST00000617938.4:c.943-1G>A | ENSP00000481158.1:n.943-1G>A | |
| ENST00000621359.2:c.943-1G>A | ENSP00000481416.1:n.943-1G>A | |
| NM_000251.2:c.943-1G>A , LRG_218t1:c.943-1G>A | NP_000242.1:n.943-1G>A | |
| NM_001258281.1:c.745-1G>A | NP_001245210.1:n.745-1G>A | |
| XM_005264332.2:c.943-1G>A | XP_005264389.2:n.943-1G>A | |
| XM_011532867.1:c.943-1G>A | XP_011531169.1:n.943-1G>A | |
| XR_939685.1:n.1015-1G>A | ||
| XM_005264332.4:c.943-1G>A | XP_005264389.2:n.943-1G>A | |
| XM_011532867.2:c.943-1G>A | XP_011531169.1:n.943-1G>A | |
| XR_001738747.2:n.1005-1G>A | ||
| XR_939685.2:n.1005-1G>A | ||
| NM_000251.3:c.943-1G>A MANE Select | NP_000242.1:n.943-1G>A |