Linked Data
ClinVar Variation Id:
317228
dbSNP Id:
rs2710
gnomAD v2:
15-89753220-C-T
gnomAD v3:
15-89209989-C-T
gnomAD v4:
15-89209989-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89209989C>T , CM000677.2:g.89209989C>T | GRCh38 |
| NC_000015.9:g.89753220C>T , CM000677.1:g.89753220C>T | GRCh37 |
| NC_000015.8:g.87554224C>T | NCBI36 |
| NG_008116.1:g.16703G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268125.10:c.*296G>A MANE Select | ENSP00000268125.5:n.*296G>A | |
| ENST00000268125.9:c.*296G>A | ENSP00000268125.5:n.*296G>A | |
| NM_000326.4:c.*296G>A | NP_000317.1:n.*296G>A | |
| XM_011521870.1:c.*296G>A | XP_011520172.1:n.*296G>A | |
| XM_011521871.1:c.*296G>A | XP_011520173.1:n.*296G>A | |
| XM_011521872.1:c.*296G>A | XP_011520174.1:n.*296G>A | |
| XM_011521870.2:c.*296G>A | XP_011520172.1:n.*296G>A | |
| XM_017022460.1:c.*296G>A | XP_016877949.1:n.*296G>A | |
| NM_000326.5:c.*296G>A MANE Select | NP_000317.1:n.*296G>A |