Linked Data
dbSNP Id:
rs777517716
ExAC:
4:100341841 T / C
gnomAD v2:
4-100341841-T-C
gnomAD v4:
4-99420684-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99420684T>C , CM000666.2:g.99420684T>C | GRCh38 |
| NC_000004.11:g.100341841T>C , CM000666.1:g.100341841T>C | GRCh37 |
| NC_000004.10:g.100560864T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000437033.7:c.674A>G MANE Select | ENSP00000414254.2:p.Asn225Ser | |
| ENST00000209665.8:c.710A>G | ENSP00000209665.4:p.Asn237Ser | |
| ENST00000437033.6:c.674A>G | ENSP00000414254.2:p.Asn225Ser | |
| ENST00000476959.5:c.734A>G | ENSP00000420269.1:p.Asn245Ser | |
| ENST00000482593.5:c.503A>G | ENSP00000420613.1:p.Asn168Ser | |
| NM_000673.4:c.710A>G | NP_000664.2:p.Asn237Ser | |
| NM_001166504.1:c.734A>G | NP_001159976.1:p.Asn245Ser | |
| NM_000673.7:c.674A>G MANE Select | NP_000664.3:p.Asn225Ser | |
| NM_001166504.2:c.734A>G | NP_001159976.1:p.Asn245Ser |