Linked Data
dbSNP Id:
rs745413308
ExAC:
1:94486919 T / C
gnomAD v2:
1-94486919-T-C
gnomAD v4:
1-94021363-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94021363T>C , CM000663.2:g.94021363T>C | GRCh38 |
| NC_000001.10:g.94486919T>C , CM000663.1:g.94486919T>C | GRCh37 |
| NC_000001.9:g.94259507T>C | NCBI36 |
| NG_009073.1:g.104787A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.4895A>G MANE Select | ENSP00000359245.3:p.Asn1632Ser | |
| ENST00000370225.3:c.4895A>G | ENSP00000359245.3:p.Asn1632Ser | |
| ENST00000460514.1:n.389A>G | ||
| ENST00000470771.1:n.5A>G | ||
| ENST00000536513.5:c.1271A>G | ENSP00000439707.2:p.Asn424Ser | |
| NM_000350.2:c.4895A>G | NP_000341.2:p.Asn1632Ser | |
| NM_000350.3:c.4895A>G MANE Select | NP_000341.2:p.Asn1632Ser |