Linked Data
ClinVar Variation Id:
13100
dbSNP Id:
rs28933990
ExAC:
15:89754025 G / A
gnomAD v2:
15-89754025-G-A
gnomAD v4:
15-89210794-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89210794G>A , CM000677.2:g.89210794G>A | GRCh38 |
| NC_000015.9:g.89754025G>A , CM000677.1:g.89754025G>A | GRCh37 |
| NC_000015.8:g.87555029G>A | NCBI36 |
| NG_008116.1:g.15898C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000268125.10:c.700C>T MANE Select | ENSP00000268125.5:p.Arg234Trp | |
| ENST00000268125.9:c.700C>T | ENSP00000268125.5:p.Arg234Trp | |
| ENST00000563254.1:c.102-30C>T | ||
| ENST00000567787.1:c.*278C>T | ENSP00000457251.1:n.*278C>T | |
| NM_000326.4:c.700C>T | NP_000317.1:p.Arg234Trp | |
| XM_011521870.1:c.700C>T | XP_011520172.1:p.Arg234Trp | |
| XM_011521871.1:c.625C>T | XP_011520173.1:p.Arg209Trp | |
| XM_011521872.1:c.625C>T | XP_011520174.1:p.Arg209Trp | |
| XM_011521870.2:c.700C>T | XP_011520172.1:p.Arg234Trp | |
| XM_017022460.1:c.727C>T | XP_016877949.1:p.Arg243Trp | |
| NM_000326.5:c.700C>T MANE Select | NP_000317.1:p.Arg234Trp |