Linked Data
ClinVar Variation Id:
343043
ClinVar RCV Id:
RCV000280839
dbSNP Id:
rs569469184
ExAC:
3:124467945 C / T
gnomAD v2:
3-124467945-C-T
gnomAD v3:
3-124749098-C-T
gnomAD v4:
3-124749098-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.124749098C>T , CM000665.2:g.124749098C>T | GRCh38 |
| NC_000003.11:g.124467945C>T , CM000665.1:g.124467945C>T | GRCh37 |
| NC_000003.10:g.125950635C>T | NCBI36 |
| NG_017037.1:g.23733C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000232607.7:c.*5014C>T MANE Select | ENSP00000232607.2:n.*5014C>T | |
| ENST00000232607.6:c.*5014C>T | ENSP00000232607.2:n.*5014C>T | |
| NM_000373.3:c.*5014C>T | NP_000364.1:n.*5014C>T | |
| NR_033434.1:n.6409C>T | ||
| NR_033437.1:n.6662C>T | ||
| XR_001740253.2:n.6691C>T | ||
| NM_000373.4:c.*5014C>T MANE Select | NP_000364.1:n.*5014C>T | |
| NR_033434.2:n.6323C>T | ||
| NR_033437.2:n.6576C>T |