Linked Data
ClinVar Variation Id:
1256642
ClinVar RCV Id:
RCV001673251
dbSNP Id:
rs1800818
gnomAD v2:
22-39640703-C-T
gnomAD v3:
22-39244698-C-T
gnomAD v4:
22-39244698-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.39244698C>T , CM000684.2:g.39244698C>T | GRCh38 |
| NC_000022.10:g.39640703C>T , CM000684.1:g.39640703C>T | GRCh37 |
| NC_000022.9:g.37970649C>T | NCBI36 |
| NG_012111.1:g.5255G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000331163.11:c.-735G>A MANE Select | ENSP00000330382.6:n.-735G>A | |
| ENST00000331163.10:c.-735G>A | ENSP00000330382.6:n.-735G>A | |
| NM_002608.2:c.-735G>A | NP_002599.1:n.-735G>A | |
| NM_002608.3:c.-735G>A | NP_002599.1:n.-735G>A | |
| NM_002608.4:c.-735G>A MANE Select | NP_002599.1:n.-735G>A |