Linked Data
dbSNP Id:
rs142925993
ExAC:
4:100341856 A / G
gnomAD v2:
4-100341856-A-G
gnomAD v3:
4-99420699-A-G
gnomAD v4:
4-99420699-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99420699A>G , CM000666.2:g.99420699A>G | GRCh38 |
| NC_000004.11:g.100341856A>G , CM000666.1:g.100341856A>G | GRCh37 |
| NC_000004.10:g.100560879A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000437033.7:c.659T>C MANE Select | ENSP00000414254.2:p.Ile220Thr | |
| ENST00000209665.8:c.695T>C | ENSP00000209665.4:p.Ile232Thr | |
| ENST00000437033.6:c.659T>C | ENSP00000414254.2:p.Ile220Thr | |
| ENST00000476959.5:c.719T>C | ENSP00000420269.1:p.Ile240Thr | |
| ENST00000482593.5:c.488T>C | ENSP00000420613.1:p.Ile163Thr | |
| NM_000673.4:c.695T>C | NP_000664.2:p.Ile232Thr | |
| NM_001166504.1:c.719T>C | NP_001159976.1:p.Ile240Thr | |
| NM_000673.7:c.659T>C MANE Select | NP_000664.3:p.Ile220Thr | |
| NM_001166504.2:c.719T>C | NP_001159976.1:p.Ile240Thr |