Linked Data
ClinVar Variation Id:
343778
dbSNP Id:
rs370682704
ExAC:
3:148925242 T / C
gnomAD v2:
3-148925242-T-C
gnomAD v3:
3-149207455-T-C
gnomAD v4:
3-149207455-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.149207455T>C , CM000665.2:g.149207455T>C | GRCh38 |
| NC_000003.11:g.148925242T>C , CM000665.1:g.148925242T>C | GRCh37 |
| NC_000003.10:g.150407932T>C | NCBI36 |
| NG_011800.1:g.19591A>G | |
| NG_011800.2:g.19591A>G | |
| NG_011800.3:g.19591A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264613.11:c.944A>G MANE Select | ENSP00000264613.6:p.Asn315Ser | |
| ENST00000264613.10:c.944A>G | ENSP00000264613.6:p.Asn315Ser | |
| ENST00000481169.5:c.944A>G | ENSP00000418773.1:p.Asn315Ser | |
| ENST00000489736.5:n.169A>G | ||
| ENST00000490639.5:n.976A>G | ||
| ENST00000494544.1:c.293A>G | ENSP00000420545.1:p.Asn98Ser | |
| NM_000096.3:c.944A>G | NP_000087.1:p.Asn315Ser | |
| NR_046371.1:n.1197A>G | ||
| XM_006713499.2:c.944A>G | XP_006713562.1:p.Asn315Ser | |
| XM_006713500.2:c.944A>G | XP_006713563.1:p.Asn315Ser | |
| XM_006713501.2:c.944A>G | XP_006713564.1:p.Asn315Ser | |
| XM_006713502.2:c.944A>G | XP_006713565.1:p.Asn315Ser | |
| XM_011512435.1:c.944A>G | XP_011510737.1:p.Asn315Ser | |
| XR_427361.2:n.1202A>G | ||
| XM_006713499.3:c.944A>G | XP_006713562.1:p.Asn315Ser | |
| XM_006713500.4:c.944A>G | XP_006713563.1:p.Asn315Ser | |
| XM_006713501.3:c.944A>G | XP_006713564.1:p.Asn315Ser | |
| XM_011512435.2:c.944A>G | XP_011510737.1:p.Asn315Ser | |
| XM_017005734.2:c.944A>G | XP_016861223.1:p.Asn315Ser | |
| XM_017005735.2:c.944A>G | XP_016861224.1:p.Asn315Ser | |
| XR_427361.3:n.1160A>G | ||
| NM_000096.4:c.944A>G MANE Select | NP_000087.2:p.Asn315Ser | |
| NR_046371.2:n.981A>G |