Linked Data
ClinVar Variation Id:
1972250
ClinVar RCV Id:
RCV002750272
dbSNP Id:
rs1051441744
gnomAD v3:
17-42541175-C-T
gnomAD v4:
17-42541175-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42541175C>T , CM000679.2:g.42541175C>T | GRCh38 |
| NC_000017.10:g.40693193C>T , CM000679.1:g.40693193C>T | GRCh37 |
| NC_000017.9:g.37946719C>T | NCBI36 |
| NG_011552.1:g.10243C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.990C>T MANE Select | ENSP00000225927.1:p.Ala330= | |
| ENST00000225927.6:c.990C>T | ENSP00000225927.1:p.Ala330= | |
| ENST00000591587.1:c.360-1853C>T | ENSP00000467836.1:n.360-1853C>T | |
| ENST00000592454.1:c.85C>T | ||
| NM_000263.3:c.990C>T | NP_000254.2:p.Ala330= | |
| XM_006721920.2:c.159C>T | XP_006721983.1:p.Ala53= | |
| XM_011524840.1:c.23-1853C>T | XP_011523142.1:n.23-1853C>T | |
| XM_017024687.1:c.159C>T | XP_016880176.1:p.Ala53= | |
| XM_024450771.1:c.1047C>T | XP_024306539.1:p.Ala349= | |
| XM_024450772.1:c.23-1853C>T | XP_024306540.1:n.23-1853C>T | |
| NM_000263.4:c.990C>T MANE Select | NP_000254.2:p.Ala330= |