Linked Data
ClinVar Variation Id:
310350
ClinVar RCV Id:
RCV000352961
dbSNP Id:
rs886049808
gnomAD v2:
12-69747564-G-T
gnomAD v3:
12-69353784-G-T
gnomAD v4:
12-69353784-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.69353784G>T , CM000674.2:g.69353784G>T | GRCh38 |
| NC_000012.11:g.69747564G>T , CM000674.1:g.69747564G>T | GRCh37 |
| NC_000012.10:g.68033831G>T | NCBI36 |
| NG_008195.1:g.10431G>T , LRG_768:g.10431G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261267.7:c.*565G>T MANE Select | ENSP00000261267.2:n.*565G>T | |
| ENST00000261267.6:c.*565G>T | ENSP00000261267.2:n.*565G>T | |
| NM_000239.2:c.*565G>T , LRG_768t1:c.*565G>T | NP_000230.1:n.*565G>T | |
| NM_000239.3:c.*565G>T MANE Select | NP_000230.1:n.*565G>T |