Linked Data
ClinVar Variation Id:
1289789
ClinVar RCV Id:
RCV001714747
dbSNP Id:
rs10003567
gnomAD v2:
4-120241674-C-T
gnomAD v3:
4-119320519-C-T
gnomAD v4:
4-119320519-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.119320519C>T , CM000666.2:g.119320519C>T | GRCh38 |
| NC_000004.11:g.120241674C>T , CM000666.1:g.120241674C>T | GRCh37 |
| NC_000004.10:g.120461122C>T | NCBI36 |
| NG_011444.1:g.6643G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274024.4:c.240+151G>A MANE Select | ENSP00000274024.3:n.240+151G>A | |
| ENST00000274024.3:c.240+151G>A | ENSP00000274024.3:n.240+151G>A | |
| NM_000134.3:c.240+151G>A | NP_000125.2:n.240+151G>A | |
| NM_000134.4:c.240+151G>A MANE Select | NP_000125.2:n.240+151G>A |