Linked Data
ClinVar Variation Id:
309231
ClinVar RCV Id:
RCV000316202
dbSNP Id:
rs563444539
gnomAD v2:
12-50344554-C-T
gnomAD v3:
12-49950771-C-T
gnomAD v4:
12-49950771-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49950771C>T , CM000674.2:g.49950771C>T | GRCh38 |
| NC_000012.11:g.50344554C>T , CM000674.1:g.50344554C>T | GRCh37 |
| NC_000012.10:g.48630821C>T | NCBI36 |
| NG_008913.1:g.5031C>T , LRG_717:g.5031C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000199280.4:c.-60C>T MANE Select | ENSP00000199280.3:n.-60C>T | |
| ENST00000199280.3:c.-60C>T | ENSP00000199280.3:n.-60C>T | |
| ENST00000550862.1:c.-60C>T | ENSP00000450022.1:n.-60C>T | |
| ENST00000551526.5:c.-60C>T | ENSP00000447148.1:n.-60C>T | |
| NM_000486.5:c.-60C>T , LRG_717t1:c.-60C>T | NP_000477.1:n.-60C>T | |
| NM_000486.6:c.-60C>T MANE Select | NP_000477.1:n.-60C>T |