Linked Data
dbSNP Id:
rs775313527
ExAC:
1:43395426 A / G
gnomAD v2:
1-43395426-A-G
gnomAD v3:
1-42929755-A-G
gnomAD v4:
1-42929755-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42929755A>G , CM000663.2:g.42929755A>G | GRCh38 |
| NC_000001.10:g.43395426A>G , CM000663.1:g.43395426A>G | GRCh37 |
| NC_000001.9:g.43168013A>G | NCBI36 |
| NG_008232.1:g.34422T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426263.10:c.705T>C MANE Select | ENSP00000416293.2:p.Ala235= | |
| ENST00000669445.1:c.57-22T>C | ||
| ENST00000674765.1:c.705T>C | ENSP00000501811.1:p.Ala235= | |
| ENST00000675112.1:n.728T>C | ||
| ENST00000676254.1:n.1154T>C | ||
| ENST00000426263.7:c.705T>C | ENSP00000416293.2:p.Ala235= | |
| ENST00000439722.2:c.584T>C | ENSP00000395521.2:n.584T>C | |
| ENST00000475162.3:c.415+871T>C | ||
| ENST00000630287.2:c.*20T>C | ENSP00000486694.1:n.*20T>C | |
| NM_006516.2:c.705T>C | NP_006507.2:p.Ala235= | |
| NM_006516.3:c.705T>C | NP_006507.2:p.Ala235= | |
| NM_006516.4:c.705T>C MANE Select | NP_006507.2:p.Ala235= |