Linked Data
ClinVar Variation Id:
1427465
ClinVar RCV Id:
RCV001933718
dbSNP Id:
rs775021192
ExAC:
15:90774404 G / A
gnomAD v2:
15-90774404-G-A
gnomAD v3:
15-90231172-G-A
gnomAD v4:
15-90231172-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90231172G>A , CM000677.2:g.90231172G>A | GRCh38 |
| NC_000015.9:g.90774404G>A , CM000677.1:g.90774404G>A | GRCh37 |
| NC_000015.8:g.88575408G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695870.1:n.2247C>T | ||
| ENST00000695871.1:n.661C>T | ||
| ENST00000695872.1:n.420C>T | ||
| ENST00000695873.1:n.568C>T | ||
| ENST00000328649.11:c.388C>T MANE Select | ENSP00000333873.6:p.Arg130Trp | |
| ENST00000650306.1:c.-57C>T | ENSP00000497451.1:n.-57C>T | |
| ENST00000328649.10:c.388C>T | ENSP00000333873.6:p.Arg130Trp | |
| ENST00000612800.1:c.508C>T | ENSP00000479860.1:p.Arg170Trp | |
| NM_001277764.1:c.508C>T | NP_001264693.1:p.Arg170Trp | |
| NM_006384.3:c.388C>T | NP_006375.2:p.Arg130Trp | |
| NR_102427.1:n.574C>T | ||
| NR_102428.1:n.440C>T | ||
| XM_006720375.1:c.388C>T | XP_006720438.1:p.Arg130Trp | |
| XM_006720375.2:c.388C>T | XP_006720438.1:p.Arg130Trp | |
| NM_006384.4:c.388C>T MANE Select | NP_006375.2:p.Arg130Trp | |
| NM_001277764.2:c.508C>T | NP_001264693.1:p.Arg170Trp |