Linked Data
dbSNP Id:
rs775270830
ExAC:
1:62913159 C / G
gnomAD v2:
1-62913159-C-G
gnomAD v4:
1-62447488-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.62447488C>G , CM000663.2:g.62447488C>G | GRCh38 |
| NC_000001.10:g.62913159C>G , CM000663.1:g.62913159C>G | GRCh37 |
| NC_000001.9:g.62685747C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000339950.5:c.1397C>G MANE Select | ENSP00000343526.4:p.Ser466Cys | |
| ENST00000339950.4:c.1397C>G | ENSP00000343526.4:p.Ser466Cys | |
| ENST00000371146.5:c.1397C>G | ENSP00000360188.1:p.Ser466Cys | |
| NM_001017415.1:c.1397C>G | NP_001017415.1:p.Ser466Cys | |
| NM_001017416.1:c.1397C>G | NP_001017416.1:p.Ser466Cys | |
| NM_003368.4:c.1397C>G | NP_003359.3:p.Ser466Cys | |
| NM_003368.5:c.1397C>G MANE Select | NP_003359.3:p.Ser466Cys | |
| NM_001017415.2:c.1397C>G | NP_001017415.1:p.Ser466Cys | |
| NM_001017416.2:c.1397C>G | NP_001017416.1:p.Ser466Cys |