Linked Data
ClinVar Variation Id:
92847
dbSNP Id:
rs144254383
ExAC:
15:89760394 G / A
gnomAD v2:
15-89760394-G-A
gnomAD v3:
15-89217163-G-A
gnomAD v4:
15-89217163-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89217163G>A , CM000677.2:g.89217163G>A | GRCh38 |
| NC_000015.9:g.89760394G>A , CM000677.1:g.89760394G>A | GRCh37 |
| NC_000015.8:g.87561398G>A | NCBI36 |
| NG_008116.1:g.9529C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268125.10:c.303C>T MANE Select | ENSP00000268125.5:p.Arg101= | |
| ENST00000268125.9:c.303C>T | ENSP00000268125.5:p.Arg101= | |
| ENST00000567787.1:c.183+120C>T | ENSP00000457251.1:n.183+120C>T | |
| NM_000326.4:c.303C>T | NP_000317.1:p.Arg101= | |
| XM_011521870.1:c.303C>T | XP_011520172.1:p.Arg101= | |
| XM_011521871.1:c.228C>T | XP_011520173.1:p.Arg76= | |
| XM_011521872.1:c.228C>T | XP_011520174.1:p.Arg76= | |
| XM_011521870.2:c.303C>T | XP_011520172.1:p.Arg101= | |
| XM_017022460.1:c.330C>T | XP_016877949.1:p.Arg110= | |
| NM_000326.5:c.303C>T MANE Select | NP_000317.1:p.Arg101= |