Linked Data
ClinVar Variation Id:
308478
ClinVar RCV Id:
RCV000360888
dbSNP Id:
rs886049309
gnomAD v4:
12-32791401-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32791401G>A , CM000674.2:g.32791401G>A | GRCh38 |
| NC_000012.11:g.32944335G>A , CM000674.1:g.32944335G>A | GRCh37 |
| NC_000012.10:g.32835602G>A | NCBI36 |
| NG_009000.1:g.110446C>T , LRG_398:g.110446C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700555.2:n.2040C>T | ||
| ENST00000700557.2:n.1629C>T | ||
| ENST00000700559.2:c.*878C>T | ENSP00000515065.2:n.*878C>T | |
| ENST00000549461.2:n.2029C>T | ||
| ENST00000700555.1:c.*1023C>T | ENSP00000515062.1:n.*1023C>T | |
| ENST00000700556.1:c.2008C>T | ||
| ENST00000700557.1:c.*1023C>T | ENSP00000515064.1:n.*1023C>T | |
| ENST00000070846.11:c.*1023C>T | ENSP00000070846.6:n.*1023C>T | |
| ENST00000340811.9:c.*1023C>T MANE Select | ENSP00000342800.5:n.*1023C>T | |
| ENST00000070846.10:c.*1023C>T | ENSP00000070846.6:n.*1023C>T | |
| ENST00000340811.8:c.*1023C>T | ENSP00000342800.4:n.*1023C>T | |
| NM_001005242.2:c.*1023C>T | NP_001005242.2:n.*1023C>T | |
| NM_004572.3:c.*1023C>T , LRG_398t1:c.*1023C>T | NP_004563.2:n.*1023C>T | |
| NM_001005242.3:c.*1023C>T MANE Select | NP_001005242.2:n.*1023C>T | |
| NM_004572.4:c.*1023C>T | NP_004563.2:n.*1023C>T |