Linked Data
ClinVar Variation Id:
361197
ClinVar RCV Id:
RCV000383625
dbSNP Id:
rs544642796
gnomAD v3:
8-10606695-C-T
gnomAD v4:
8-10606695-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.10606695C>T , CM000670.2:g.10606695C>T | GRCh38 |
| NC_000008.10:g.10464205C>T , CM000670.1:g.10464205C>T | GRCh37 |
| NC_000008.9:g.10501615C>T | NCBI36 |
| NG_028035.1:g.53413G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382483.4:c.*200G>A MANE Select | ENSP00000371923.3:n.*200G>A | |
| ENST00000382483.3:c.*200G>A | ENSP00000371923.3:n.*200G>A | |
| NM_178857.5:c.*200G>A | NP_849188.4:n.*200G>A | |
| NM_178857.6:c.*200G>A MANE Select | NP_849188.4:n.*200G>A |