Linked Data
dbSNP Id:
rs772502374
ExAC:
4:69535702 A / G
gnomAD v2:
4-69535702-A-G
gnomAD v3:
4-68669984-A-G
gnomAD v4:
4-68669984-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.68669984A>G , CM000666.2:g.68669984A>G | GRCh38 |
| NC_000004.11:g.69535702A>G , CM000666.1:g.69535702A>G | GRCh37 |
| NC_000004.10:g.69218297A>G | NCBI36 |
| NG_052676.1:g.5793T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338206.6:c.635T>C MANE Select | ENSP00000341045.5:p.Ile212Thr | |
| ENST00000338206.5:c.635T>C | ENSP00000341045.5:p.Ile212Thr | |
| ENST00000616841.4:c.635T>C | ENSP00000482004.1:p.Ile212Thr | |
| NM_001076.3:c.635T>C | NP_001067.2:p.Ile212Thr | |
| NM_001076.4:c.635T>C MANE Select | NP_001067.2:p.Ile212Thr |