Linked Data
ClinVar Variation Id:
476117
dbSNP Id:
rs370123138
ExAC:
11:47459584 T / C
gnomAD v2:
11-47459584-T-C
gnomAD v3:
11-47438033-T-C
gnomAD v4:
11-47438033-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47438033T>C , CM000673.2:g.47438033T>C | GRCh38 |
| NC_000011.9:g.47459584T>C , CM000673.1:g.47459584T>C | GRCh37 |
| NC_000011.8:g.47416160T>C | NCBI36 |
| NG_008312.1:g.16147A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298854.7:c.1181A>G MANE Select | ENSP00000298854.2:p.Asn394Ser | |
| ENST00000298854.6:c.1181A>G | ENSP00000298854.2:p.Asn394Ser | |
| ENST00000352508.7:c.1004A>G | ENSP00000298853.3:p.Asn335Ser | |
| ENST00000524487.5:c.1022A>G | ENSP00000435551.2:p.Asn341Ser | |
| ENST00000528356.1:n.136A>G | ||
| NM_005055.4:c.1181A>G | NP_005046.2:p.Asn394Ser | |
| NM_032645.4:c.1004A>G | NP_116034.2:p.Asn335Ser | |
| XM_005253042.2:c.1127A>G | XP_005253099.1:p.Asn376Ser | |
| XM_005253043.2:c.1058A>G | XP_005253100.1:p.Asn353Ser | |
| XM_011520252.1:c.1266A>G | XP_011518554.1:p.Gln422= | |
| XM_011520253.1:c.1205A>G | XP_011518555.1:p.Asn402Ser | |
| XM_005253042.3:c.1127A>G | XP_005253099.1:p.Asn376Ser | |
| XM_005253043.3:c.1058A>G | XP_005253100.1:p.Asn353Ser | |
| NM_005055.5:c.1181A>G MANE Select | NP_005046.2:p.Asn394Ser | |
| NM_032645.5:c.1004A>G | NP_116034.2:p.Asn335Ser |