Linked Data
ClinVar Variation Id:
282929
ClinVar RCV Id:
RCV000312462
dbSNP Id:
rs769973410
gnomAD v4:
7-92517404-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92517404T>A , CM000669.2:g.92517404T>A | GRCh38 |
| NC_000007.13:g.92146718T>A , CM000669.1:g.92146718T>A | GRCh37 |
| NC_000007.12:g.91984654T>A | NCBI36 |
| NG_008341.1:g.16128A>T | |
| NG_008341.2:g.16128A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.1111A>T MANE Select | ENSP00000248633.4:p.Arg371Trp | |
| ENST00000248633.8:c.1111A>T | ENSP00000248633.4:p.Arg371Trp | |
| ENST00000422866.1:c.12A>T | ||
| ENST00000428214.5:c.1111A>T | ENSP00000394413.1:p.Arg371Trp | |
| ENST00000438045.5:c.274-3437A>T | ENSP00000410438.1:n.274-3437A>T | |
| ENST00000484913.5:n.1150A>T | ||
| NM_000466.2:c.1111A>T | NP_000457.1:p.Arg371Trp | |
| NM_001282677.1:c.1111A>T | NP_001269606.1:p.Arg371Trp | |
| NM_001282678.1:c.487A>T | NP_001269607.1:p.Arg163Trp | |
| XR_242246.3:n.1207A>T | ||
| XM_017012319.2:c.-556A>T | XP_016867808.1:n.-556A>T | |
| XR_001744808.2:n.221A>T | ||
| XR_242246.5:n.1158A>T | ||
| NM_000466.3:c.1111A>T MANE Select | NP_000457.1:p.Arg371Trp | |
| NM_001282677.2:c.1111A>T | NP_001269606.1:p.Arg371Trp | |
| NM_001282678.2:c.487A>T | NP_001269607.1:p.Arg163Trp |