Linked Data
ClinVar Variation Id:
343035
ClinVar RCV Id:
RCV000327388
dbSNP Id:
rs117624716
ExAC:
3:124467648 C / T
gnomAD v2:
3-124467648-C-T
gnomAD v3:
3-124748801-C-T
gnomAD v4:
3-124748801-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.124748801C>T , CM000665.2:g.124748801C>T | GRCh38 |
| NC_000003.11:g.124467648C>T , CM000665.1:g.124467648C>T | GRCh37 |
| NC_000003.10:g.125950338C>T | NCBI36 |
| NG_017037.1:g.23436C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000232607.7:c.*4717C>T MANE Select | ENSP00000232607.2:n.*4717C>T | |
| ENST00000232607.6:c.*4717C>T | ENSP00000232607.2:n.*4717C>T | |
| NM_000373.3:c.*4717C>T | NP_000364.1:n.*4717C>T | |
| NR_033434.1:n.6112C>T | ||
| NR_033437.1:n.6365C>T | ||
| XR_001740253.2:n.6394C>T | ||
| NM_000373.4:c.*4717C>T MANE Select | NP_000364.1:n.*4717C>T | |
| NR_033434.2:n.6026C>T | ||
| NR_033437.2:n.6279C>T |