Linked Data
ClinVar Variation Id:
21410
dbSNP Id:
rs118192252
ExAC:
8:133153438 T / C
gnomAD v2:
8-133153438-T-C
gnomAD v3:
8-132141191-T-C
gnomAD v4:
8-132141191-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.132141191T>C , CM000670.2:g.132141191T>C | GRCh38 |
| NC_000008.10:g.133153438T>C , CM000670.1:g.133153438T>C | GRCh37 |
| NC_000008.9:g.133222620T>C | NCBI36 |
| NG_008854.2:g.344567A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000388996.10:c.1403A>G MANE Select | ENSP00000373648.3:p.Asn468Ser | |
| ENST00000521134.6:c.1043A>G | ENSP00000429799.1:p.Asn348Ser | |
| ENST00000638588.1:c.1076A>G | ENSP00000491940.1:p.Asn359Ser | |
| ENST00000639496.1:c.*27A>G | ENSP00000491165.1:n.*27A>G | |
| ENST00000388996.8:c.1403A>G | ENSP00000373648.3:p.Asn468Ser | |
| ENST00000519445.5:c.1403A>G | ENSP00000428790.1:p.Asn468Ser | |
| ENST00000519589.1:n.1181A>G | ||
| ENST00000521134.5:c.1043A>G | ENSP00000429799.1:p.Asn348Ser | |
| ENST00000621976.1:c.1040A>G | ENSP00000482510.1:p.Asn347Ser | |
| NM_001204824.1:c.1043A>G | NP_001191753.1:p.Asn348Ser | |
| NM_004519.3:c.1403A>G | NP_004510.1:p.Asn468Ser | |
| XM_005250914.2:c.158A>G | XP_005250971.1:p.Asn53Ser | |
| XM_006716555.2:c.695A>G | XP_006716618.1:p.Asn232Ser | |
| XM_011517026.1:c.1043A>G | XP_011515328.1:p.Asn348Ser | |
| XM_005250914.3:c.158A>G | XP_005250971.1:p.Asn53Ser | |
| XM_006716555.3:c.695A>G | XP_006716618.1:p.Asn232Ser | |
| XM_011517026.2:c.1043A>G | XP_011515328.1:p.Asn348Ser | |
| XM_017013400.1:c.1181A>G | XP_016868889.1:p.Asn394Ser | |
| NM_004519.4:c.1403A>G MANE Select | NP_004510.1:p.Asn468Ser | |
| NM_001204824.2:c.1043A>G | NP_001191753.1:p.Asn348Ser |