Linked Data
ClinVar Variation Id:
2058639
ClinVar RCV Id:
RCV002928623
dbSNP Id:
rs770552656
ExAC:
4:52894255 T / C
gnomAD v2:
4-52894255-T-C
gnomAD v3:
4-52028089-T-C
gnomAD v4:
4-52028089-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52028089T>C , CM000666.2:g.52028089T>C | GRCh38 |
| NC_000004.11:g.52894255T>C , CM000666.1:g.52894255T>C | GRCh37 |
| NC_000004.10:g.52589012T>C | NCBI36 |
| NG_008891.1:g.15231A>G , LRG_204:g.15231A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381431.10:c.632A>G MANE Select | ENSP00000370839.6:p.Asn211Ser | |
| ENST00000381431.9:c.632A>G | ENSP00000370839.5:p.Asn211Ser | |
| NM_000232.4:c.632A>G , LRG_204t1:c.632A>G | NP_000223.1:p.Asn211Ser | |
| XM_006714049.2:c.335A>G | XP_006714112.1:p.Asn112Ser | |
| XM_011534403.1:c.422A>G | XP_011532705.1:p.Asn141Ser | |
| XM_011534404.1:c.335A>G | XP_011532706.1:p.Asn112Ser | |
| NM_000232.5:c.632A>G MANE Select | NP_000223.1:p.Asn211Ser |