Linked Data
ClinVar Variation Id:
2877366
ClinVar RCV Id:
RCV003712867
dbSNP Id:
rs1389939841
gnomAD v4:
3-133756886-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.133756886C>T , CM000665.2:g.133756886C>T | GRCh38 |
| NC_000003.11:g.133475730C>T , CM000665.1:g.133475730C>T | GRCh37 |
| NC_000003.10:g.134958420C>T | NCBI36 |
| NG_013080.1:g.15754C>T | |
| NG_013080.2:g.99889C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402696.9:c.747C>T MANE Select | ENSP00000385834.3:p.Asn249= | |
| ENST00000402696.7:c.747C>T | ENSP00000385834.3:p.Asn249= | |
| ENST00000482271.5:c.366C>T | ENSP00000419338.1:p.Asn122= | |
| ENST00000485977.1:c.158-46C>T | ENSP00000418716.1:n.158-46C>T | |
| NM_001063.3:c.747C>T | NP_001054.1:p.Asn249= | |
| XM_011513100.1:c.747C>T | XP_011511402.1:p.Asn249= | |
| NM_001354703.1:c.615C>T | NP_001341632.1:p.Asn205= | |
| NM_001354704.1:c.366C>T | NP_001341633.1:p.Asn122= | |
| NM_001063.4:c.747C>T MANE Select | NP_001054.2:p.Asn249= | |
| NM_001354703.2:c.615C>T | NP_001341632.2:p.Asn205= | |
| NM_001354704.2:c.366C>T | NP_001341633.2:p.Asn122= |