Linked Data
ClinVar Variation Id:
342489
ClinVar RCV Id:
RCV000352051
dbSNP Id:
rs546347626
gnomAD v2:
3-10194503-G-T
gnomAD v3:
3-10152819-G-T
gnomAD v4:
3-10152819-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10152819G>T , CM000665.2:g.10152819G>T | GRCh38 |
| NC_000003.11:g.10194503G>T , CM000665.1:g.10194503G>T | GRCh37 |
| NC_000003.10:g.10169503G>T | NCBI36 |
| NG_008212.3:g.16185G>T , LRG_322:g.16185G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696153.1:c.*2854G>T | ENSP00000512444.1:n.*2854G>T | |
| ENST00000256474.3:c.*2854G>T MANE Select | ENSP00000256474.3:n.*2854G>T | |
| NM_000551.3:c.*2854G>T , LRG_322t1:c.*2854G>T | NP_000542.1:n.*2854G>T | |
| NM_198156.2:c.*2854G>T | NP_937799.1:n.*2854G>T | |
| NM_001354723.1:c.*3050G>T | NP_001341652.1:n.*3050G>T | |
| NM_000551.4:c.*2854G>T MANE Select | NP_000542.1:n.*2854G>T | |
| NM_001354723.2:c.*3050G>T | NP_001341652.1:n.*3050G>T | |
| NM_198156.3:c.*2854G>T | NP_937799.1:n.*2854G>T |