Linked Data
ClinVar Variation Id:
1511658
ClinVar RCV Id:
RCV002043383
dbSNP Id:
rs975683128
gnomAD v2:
2-27702948-T-C
gnomAD v3:
2-27480081-T-C
gnomAD v4:
2-27480081-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27480081T>C , CM000664.2:g.27480081T>C | GRCh38 |
| NC_000002.11:g.27702948T>C , CM000664.1:g.27702948T>C | GRCh37 |
| NC_000002.10:g.27556452T>C | NCBI36 |
| NG_034068.1:g.14731A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260570.8:c.854A>G MANE Select | ENSP00000260570.3:p.Asn285Ser | |
| ENST00000476264.7:n.1143A>G | ||
| ENST00000674701.1:c.854A>G | ENSP00000502275.1:p.Asn285Ser | |
| ENST00000674824.1:c.791A>G | ENSP00000501824.1:p.Asn264Ser | |
| ENST00000674932.1:c.*517A>G | ENSP00000501967.1:n.*517A>G | |
| ENST00000675410.1:c.173A>G | ENSP00000502030.1:p.Asn58Ser | |
| ENST00000675618.1:n.934A>G | ||
| ENST00000675690.1:c.854A>G | ENSP00000502283.1:p.Asn285Ser | |
| ENST00000675728.1:c.791A>G | ENSP00000501700.1:p.Asn264Ser | |
| ENST00000675729.1:c.854A>G | ENSP00000502319.1:p.Asn285Ser | |
| ENST00000675963.1:c.*552A>G | ENSP00000502708.1:n.*552A>G | |
| ENST00000676119.1:c.*144A>G | ENSP00000501701.1:n.*144A>G | |
| ENST00000676300.1:n.940A>G | ||
| ENST00000260570.7:c.854A>G | ENSP00000260570.3:p.Asn285Ser | |
| ENST00000359466.10:c.854A>G | ENSP00000352443.6:p.Asn285Ser | |
| ENST00000416524.2:c.791A>G | ENSP00000407408.2:p.Asn264Ser | |
| ENST00000476264.6:n.800A>G | ||
| ENST00000507184.5:n.986A>G | ||
| ENST00000511842.5:n.879A>G | ||
| NM_015662.2:c.854A>G | NP_056477.1:p.Asn285Ser | |
| XM_005264254.1:c.854A>G | XP_005264311.1:p.Asn285Ser | |
| XM_006711986.2:c.791A>G | XP_006712049.1:p.Asn264Ser | |
| XM_006711987.1:c.854A>G | XP_006712050.1:p.Asn285Ser | |
| XM_011532757.1:c.173A>G | XP_011531059.1:p.Asn58Ser | |
| XM_011532758.1:c.854A>G | XP_011531060.1:p.Asn285Ser | |
| XM_006711986.3:c.791A>G | XP_006712049.1:p.Asn264Ser | |
| XM_011532757.2:c.173A>G | XP_011531059.1:p.Asn58Ser | |
| XM_017003790.1:c.791A>G | XP_016859279.1:p.Asn264Ser | |
| XM_017003791.1:c.173A>G | XP_016859280.1:p.Asn58Ser | |
| XM_017003792.1:c.854A>G | XP_016859281.1:p.Asn285Ser | |
| XM_017003793.1:c.-597A>G | XP_016859282.1:n.-597A>G | |
| XM_017003794.1:c.-597A>G | XP_016859283.1:n.-597A>G | |
| XM_017003795.1:c.-969A>G | XP_016859284.1:n.-969A>G | |
| XR_001738698.1:n.909A>G | ||
| NM_015662.3:c.854A>G MANE Select | NP_056477.1:p.Asn285Ser |