Linked Data
ClinVar Variation Id:
1433898
ClinVar RCV Id:
RCV001946198
dbSNP Id:
rs775815805
ExAC:
4:5630370 T / C
gnomAD v2:
4-5630370-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.5628643T>C , CM000666.2:g.5628643T>C | GRCh38 |
| NC_000004.11:g.5630370T>C , CM000666.1:g.5630370T>C | GRCh37 |
| NC_000004.10:g.5681271T>C | NCBI36 |
| NG_015821.1:g.85906A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344408.10:c.1802A>G MANE Select | ENSP00000342144.5:p.Asn601Ser | |
| ENST00000310917.6:c.1562A>G | ENSP00000311683.2:p.Asn521Ser | |
| ENST00000344408.9:c.1802A>G | ENSP00000342144.5:p.Asn601Ser | |
| ENST00000475313.5:c.1562A>G | ENSP00000431981.1:p.Asn521Ser | |
| ENST00000509670.1:c.*195A>G | ENSP00000423876.1:n.*195A>G | |
| NM_001166136.1:c.1562A>G | NP_001159608.1:p.Asn521Ser | |
| NM_147127.4:c.1802A>G | NP_667338.3:p.Asn601Ser | |
| XM_011513392.1:c.1811A>G | XP_011511694.1:p.Asn604Ser | |
| XM_011513393.1:c.1811A>G | XP_011511695.1:p.Asn604Ser | |
| XM_011513394.1:c.1571A>G | XP_011511696.1:p.Asn524Ser | |
| XM_017007736.1:c.1562A>G | XP_016863225.1:p.Asn521Ser | |
| XM_017007737.1:c.1562A>G | XP_016863226.1:p.Asn521Ser | |
| XM_017007738.1:c.1802A>G | XP_016863227.1:p.Asn601Ser | |
| XM_017007739.1:c.122A>G | XP_016863228.1:p.Asn41Ser | |
| XM_024453893.1:c.122A>G | XP_024309661.1:p.Asn41Ser | |
| XR_001741141.1:n.1867A>G | ||
| NM_147127.5:c.1802A>G MANE Select | NP_667338.3:p.Asn601Ser | |
| NM_001166136.2:c.1562A>G | NP_001159608.1:p.Asn521Ser |