Linked Data
ClinVar Variation Id:
1353781
ClinVar RCV Id:
RCV001887654
dbSNP Id:
rs2138145305
gnomAD v4:
13-48381342-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48381342A>T , CM000675.2:g.48381342A>T | GRCh38 |
| NC_000013.10:g.48955478A>T , CM000675.1:g.48955478A>T | GRCh37 |
| NC_000013.9:g.47853479A>T | NCBI36 |
| NG_009009.1:g.82596A>T , LRG_517:g.82596A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.1594A>T MANE Select | ENSP00000267163.4:p.Ile532Phe | |
| ENST00000643064.1:c.93A>T | ||
| ENST00000650461.1:c.1594A>T | ENSP00000497193.1:p.Ile532Phe | |
| ENST00000267163.4:c.1594A>T | ENSP00000267163.4:p.Ile532Phe | |
| NM_000321.2:c.1594A>T , LRG_517t1:c.1594A>T | NP_000312.2:p.Ile532Phe | |
| XM_011535171.1:c.1333A>T | XP_011533473.1:p.Ile445Phe | |
| XM_011535171.2:c.1333A>T | XP_011533473.1:p.Ile445Phe | |
| NM_000321.3:c.1594A>T MANE Select | NP_000312.2:p.Ile532Phe |