Linked Data
dbSNP Id:
rs1427203520
gnomAD v3:
1-182586109-T-C
gnomAD v4:
1-182586109-T-C
COSMIC:
COSM414271
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.182586109T>C , CM000663.2:g.182586109T>C | GRCh38 |
| NC_000001.10:g.182555244T>C , CM000663.1:g.182555244T>C | GRCh37 |
| NC_000001.9:g.180821867T>C | NCBI36 |
| NG_009024.2:g.5865A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367559.7:c.698A>G MANE Select | ENSP00000356530.3:p.Asn233Ser | |
| ENST00000539397.1:c.698A>G | ENSP00000440844.1:p.Asn233Ser | |
| NM_021133.3:c.698A>G | NP_066956.1:p.Asn233Ser | |
| XM_005245411.2:c.698A>G | XP_005245468.1:p.Asn233Ser | |
| XR_001737359.1:n.981A>G | ||
| XR_001737360.1:n.981A>G | ||
| NM_021133.4:c.698A>G MANE Select | NP_066956.1:p.Asn233Ser |