Linked Data
ClinVar Variation Id:
471681
ClinVar RCV Id:
RCV000555284
dbSNP Id:
rs759328980
ExAC:
3:38518824 C / T
gnomAD v2:
3-38518824-C-T
gnomAD v3:
3-38477333-C-T
gnomAD v4:
3-38477333-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.38477333C>T , CM000665.2:g.38477333C>T | GRCh38 |
| NC_000003.11:g.38518824C>T , CM000665.1:g.38518824C>T | GRCh37 |
| NC_000003.10:g.38493828C>T | NCBI36 |
| NG_011791.1:g.28035C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000352511.5:c.99C>T MANE Select | ENSP00000340361.3:p.Asn33= | |
| ENST00000352511.4:c.99C>T | ENSP00000340361.3:p.Asn33= | |
| ENST00000461232.1:n.3888C>T | ||
| ENST00000465020.5:n.103C>T | ||
| NM_001106.3:c.99C>T | NP_001097.2:p.Asn33= | |
| XM_005265583.2:c.162C>T | XP_005265640.1:p.Asn54= | |
| XM_005265583.3:c.162C>T | XP_005265640.1:p.Asn54= | |
| XM_017007514.1:c.141C>T | XP_016863003.1:p.Asn47= | |
| XM_017007515.2:c.117C>T | XP_016863004.1:p.Asn39= | |
| XM_017007516.1:c.96C>T | XP_016863005.1:p.Asn32= | |
| NM_001106.4:c.99C>T MANE Select | NP_001097.2:p.Asn33= |