Linked Data
ClinVar Variation Id:
355571
ClinVar RCV Id:
RCV000345766
dbSNP Id:
rs545482337
gnomAD v3:
6-143450868-G-C
gnomAD v4:
6-143450868-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.143450868G>C , CM000668.2:g.143450868G>C | GRCh38 |
| NC_000006.11:g.143772005G>C , CM000668.1:g.143772005G>C | GRCh37 |
| NC_000006.10:g.143813698G>C | NCBI36 |
| NG_008459.1:g.5088G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367591.5:c.-175G>C MANE Select | ENSP00000356563.4:n.-175G>C | |
| ENST00000367592.5:c.-175G>C | ENSP00000356564.1:n.-175G>C | |
| NM_003630.2:c.-175G>C | NP_003621.1:n.-175G>C | |
| NM_003630.3:c.-175G>C MANE Select | NP_003621.1:n.-175G>C |