Linked Data
ClinVar Variation Id:
493035
dbSNP Id:
rs1181822928
gnomAD v2:
1-43392724-A-G
gnomAD v4:
1-42927053-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42927053A>G , CM000663.2:g.42927053A>G | GRCh38 |
| NC_000001.10:g.43392724A>G , CM000663.1:g.43392724A>G | GRCh37 |
| NC_000001.9:g.43165311A>G | NCBI36 |
| NG_008232.1:g.37124T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426263.10:c.1467T>C MANE Select | ENSP00000416293.2:p.Asp489= | |
| ENST00000674545.1:n.2084T>C | ||
| ENST00000674765.1:c.1030-196T>C | ENSP00000501811.1:n.1030-196T>C | |
| ENST00000675112.1:n.1768T>C | ||
| ENST00000676254.1:n.1916T>C | ||
| ENST00000426263.7:c.1467T>C | ENSP00000416293.2:p.Asp489= | |
| ENST00000475162.3:c.416-75T>C | ||
| ENST00000630287.2:c.*782T>C | ENSP00000486694.1:n.*782T>C | |
| NM_006516.2:c.1467T>C | NP_006507.2:p.Asp489= | |
| NM_006516.3:c.1467T>C | NP_006507.2:p.Asp489= | |
| NM_006516.4:c.1467T>C MANE Select | NP_006507.2:p.Asp489= |