Linked Data
dbSNP Id:
rs1472135045
gnomAD v2:
1-94486844-A-C
gnomAD v3:
1-94021288-A-C
gnomAD v4:
1-94021288-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94021288A>C , CM000663.2:g.94021288A>C | GRCh38 |
| NC_000001.10:g.94486844A>C , CM000663.1:g.94486844A>C | GRCh37 |
| NC_000001.9:g.94259432A>C | NCBI36 |
| NG_009073.1:g.104862T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.4970T>G MANE Select | ENSP00000359245.3:p.Ile1657Ser | |
| ENST00000370225.3:c.4970T>G | ENSP00000359245.3:p.Ile1657Ser | |
| ENST00000460514.1:n.464T>G | ||
| ENST00000470771.1:n.80T>G | ||
| ENST00000536513.5:c.1346T>G | ENSP00000439707.2:p.Ile449Ser | |
| NM_000350.2:c.4970T>G | NP_000341.2:p.Ile1657Ser | |
| NM_000350.3:c.4970T>G MANE Select | NP_000341.2:p.Ile1657Ser |