Linked Data
ClinVar Variation Id:
1646704
ClinVar RCV Id:
RCV002151274
dbSNP Id:
rs2150969145
MyVariant Identifiers:
chr15:g.89755070A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89211839A>G , CM000677.2:g.89211839A>G | GRCh38 |
| NC_000015.9:g.89755070A>G , CM000677.1:g.89755070A>G | GRCh37 |
| NC_000015.8:g.87556074A>G | NCBI36 |
| NG_008116.1:g.14853T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268125.10:c.588T>C MANE Select | ENSP00000268125.5:p.Asn196= | |
| ENST00000268125.9:c.588T>C | ENSP00000268125.5:p.Asn196= | |
| ENST00000563254.1:c.5T>C | ||
| ENST00000567787.1:c.*166T>C | ENSP00000457251.1:n.*166T>C | |
| NM_000326.4:c.588T>C | NP_000317.1:p.Asn196= | |
| XM_011521870.1:c.588T>C | XP_011520172.1:p.Asn196= | |
| XM_011521871.1:c.513T>C | XP_011520173.1:p.Asn171= | |
| XM_011521872.1:c.513T>C | XP_011520174.1:p.Asn171= | |
| XM_011521870.2:c.588T>C | XP_011520172.1:p.Asn196= | |
| XM_017022460.1:c.615T>C | XP_016877949.1:p.Asn205= | |
| NM_000326.5:c.588T>C MANE Select | NP_000317.1:p.Asn196= |