Linked Data
ClinVar Variation Id:
21412
dbSNP Id:
rs118192254
ExAC:
8:133141666 T / C
gnomAD v2:
8-133141666-T-C
gnomAD v3:
8-132129419-T-C
gnomAD v4:
8-132129419-T-C
PubMed:
PMID:20437616
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.132129419T>C , CM000670.2:g.132129419T>C | GRCh38 |
| NC_000008.10:g.133141666T>C , CM000670.1:g.133141666T>C | GRCh37 |
| NC_000008.9:g.133210848T>C | NCBI36 |
| NG_008854.2:g.356339A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000388996.10:c.2462A>G MANE Select | ENSP00000373648.3:p.Asn821Ser | |
| ENST00000521134.6:c.2102A>G | ENSP00000429799.1:p.Asn701Ser | |
| ENST00000638588.1:c.2135A>G | ENSP00000491940.1:p.Asn712Ser | |
| ENST00000639496.1:c.*1086A>G | ENSP00000491165.1:n.*1086A>G | |
| ENST00000388996.8:c.2462A>G | ENSP00000373648.3:p.Asn821Ser | |
| ENST00000519445.5:c.2426A>G | ENSP00000428790.1:p.Asn809Ser | |
| ENST00000519589.1:n.3190A>G | ||
| ENST00000521134.5:c.2102A>G | ENSP00000429799.1:p.Asn701Ser | |
| ENST00000621976.1:c.2099A>G | ENSP00000482510.1:p.Asn700Ser | |
| NM_001204824.1:c.2102A>G | NP_001191753.1:p.Asn701Ser | |
| NM_004519.3:c.2462A>G | NP_004510.1:p.Asn821Ser | |
| XM_005250914.2:c.1217A>G | XP_005250971.1:p.Asn406Ser | |
| XM_006716555.2:c.1754A>G | XP_006716618.1:p.Asn585Ser | |
| XM_011517026.1:c.2102A>G | XP_011515328.1:p.Asn701Ser | |
| XM_005250914.3:c.1217A>G | XP_005250971.1:p.Asn406Ser | |
| XM_006716555.3:c.1754A>G | XP_006716618.1:p.Asn585Ser | |
| XM_011517026.2:c.2102A>G | XP_011515328.1:p.Asn701Ser | |
| XM_017013400.1:c.2240A>G | XP_016868889.1:p.Asn747Ser | |
| NM_004519.4:c.2462A>G MANE Select | NP_004510.1:p.Asn821Ser | |
| NM_001204824.2:c.2102A>G | NP_001191753.1:p.Asn701Ser |