Linked Data
ClinVar Variation Id:
309230
ClinVar RCV Id:
RCV000261018
dbSNP Id:
rs149553671
gnomAD v3:
12-49950756-G-T
gnomAD v4:
12-49950756-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49950756G>T , CM000674.2:g.49950756G>T | GRCh38 |
| NC_000012.11:g.50344539G>T , CM000674.1:g.50344539G>T | GRCh37 |
| NC_000012.10:g.48630806G>T | NCBI36 |
| NG_008913.1:g.5016G>T , LRG_717:g.5016G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000199280.4:c.-75G>T MANE Select | ENSP00000199280.3:n.-75G>T | |
| ENST00000199280.3:c.-75G>T | ENSP00000199280.3:n.-75G>T | |
| ENST00000550862.1:c.-75G>T | ENSP00000450022.1:n.-75G>T | |
| ENST00000551526.5:c.-75G>T | ENSP00000447148.1:n.-75G>T | |
| NM_000486.5:c.-75G>T , LRG_717t1:c.-75G>T | NP_000477.1:n.-75G>T | |
| NM_000486.6:c.-75G>T MANE Select | NP_000477.1:n.-75G>T |