Linked Data
ClinVar Variation Id:
1307532
ClinVar RCV Id:
RCV001760950
dbSNP Id:
rs2137706291
COSMIC:
COSM144604
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49022618T>C , CM000674.2:g.49022618T>C | GRCh38 |
| NC_000012.11:g.49416401T>C , CM000674.1:g.49416401T>C | GRCh37 |
| NC_000012.10:g.47702668T>C | NCBI36 |
| NG_027827.1:g.37707A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526209.2:c.280A>G | ||
| ENST00000681974.1:n.982A>G | ||
| ENST00000682693.1:n.1944A>G | ||
| ENST00000682886.1:n.480A>G | ||
| ENST00000683543.2:c.16358A>G | ENSP00000506726.1:p.Asn5453Ser | |
| ENST00000683988.1:c.281A>G | ENSP00000506939.1:p.Asn94Ser | |
| ENST00000684428.1:c.845A>G | ENSP00000507433.1:p.Asn282Ser | |
| ENST00000684755.1:n.893A>G | ||
| ENST00000685024.1:c.1464A>G | ||
| ENST00000685166.1:c.16319A>G | ENSP00000509386.1:p.Asn5440Ser | |
| ENST00000688411.1:c.787A>G | ENSP00000510146.1:n.787A>G | |
| ENST00000691932.1:c.311A>G | ENSP00000509037.1:p.Asn104Ser | |
| ENST00000692637.1:c.16307A>G | ENSP00000509666.1:p.Asn5436Ser | |
| ENST00000301067.12:c.16310A>G MANE Select | ENSP00000301067.7:p.Asn5437Ser | |
| ENST00000301067.11:c.16310A>G | ENSP00000301067.7:p.Asn5437Ser | |
| ENST00000526209.1:c.353A>G | ENSP00000435714.1:p.Asn118Ser | |
| NM_003482.3:c.16310A>G | NP_003473.3:p.Asn5437Ser | |
| XM_005269162.3:c.16310A>G | XP_005269219.1:p.Asn5437Ser | |
| XM_006719614.2:c.16319A>G | XP_006719677.1:p.Asn5440Ser | |
| XM_006719616.2:c.16307A>G | XP_006719679.1:p.Asn5436Ser | |
| XM_011538770.1:c.16367A>G | XP_011537072.1:p.Asn5456Ser | |
| XM_011538771.1:c.16364A>G | XP_011537073.1:p.Asn5455Ser | |
| XM_011538772.1:c.16358A>G | XP_011537074.1:p.Asn5453Ser | |
| XM_011538773.1:c.16355A>G | XP_011537075.1:p.Asn5452Ser | |
| XM_011538774.1:c.16346A>G | XP_011537076.1:p.Asn5449Ser | |
| XM_011538775.1:c.16301A>G | XP_011537077.1:p.Asn5434Ser | |
| XM_011538776.1:c.16274A>G | XP_011537078.1:p.Asn5425Ser | |
| XM_005269162.4:c.16310A>G | XP_005269219.1:p.Asn5437Ser | |
| XM_006719614.4:c.16319A>G | XP_006719677.1:p.Asn5440Ser | |
| XM_006719616.3:c.16307A>G | XP_006719679.1:p.Asn5436Ser | |
| XM_011538770.2:c.16367A>G | XP_011537072.1:p.Asn5456Ser | |
| XM_011538771.2:c.16364A>G | XP_011537073.1:p.Asn5455Ser | |
| XM_011538772.2:c.16358A>G | XP_011537074.1:p.Asn5453Ser | |
| XM_011538773.2:c.16355A>G | XP_011537075.1:p.Asn5452Ser | |
| XM_011538774.2:c.16346A>G | XP_011537076.1:p.Asn5449Ser | |
| XM_011538776.2:c.16274A>G | XP_011537078.1:p.Asn5425Ser | |
| XR_001748874.1:n.16487A>G | ||
| NM_003482.4:c.16310A>G MANE Select | NP_003473.3:p.Asn5437Ser |