Linked Data
ClinVar Variation Id:
333532
ClinVar RCV Id:
RCV000325213
dbSNP Id:
rs77771615
gnomAD v2:
2-202485525-A-C
gnomAD v3:
2-201620802-A-C
gnomAD v4:
2-201620802-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.201620802A>C , CM000664.2:g.201620802A>C | GRCh38 |
| NC_000002.11:g.202485525A>C , CM000664.1:g.202485525A>C | GRCh37 |
| NC_000002.10:g.202193770A>C | NCBI36 |
| NG_032049.1:g.27728T>G | |
| NG_051007.1:g.3381T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000621467.5:c.*3453T>G | ENSP00000480508.2:n.*3453T>G | |
| ENST00000686475.1:n.4620T>G | ||
| ENST00000409883.7:c.*3453T>G MANE Select | ENSP00000386264.2:n.*3453T>G | |
| ENST00000409444.6:c.*3453T>G | ENSP00000387203.2:n.*3453T>G | |
| ENST00000409883.6:c.*3453T>G | ENSP00000386264.2:n.*3453T>G | |
| ENST00000495329.1:n.3819T>G | ||
| NM_001044385.2:c.*3453T>G | NP_001037850.1:n.*3453T>G | |
| NM_152388.3:c.*3453T>G | NP_689601.2:n.*3453T>G | |
| NM_001044385.3:c.*3453T>G MANE Select | NP_001037850.1:n.*3453T>G | |
| NM_152388.4:c.*3453T>G | NP_689601.2:n.*3453T>G |