Linked Data
ClinVar Variation Id:
282249
dbSNP Id:
rs762412447
ExAC:
4:52895918 T / A
gnomAD v2:
4-52895918-T-A
gnomAD v4:
4-52029752-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52029752T>A , CM000666.2:g.52029752T>A | GRCh38 |
| NC_000004.11:g.52895918T>A , CM000666.1:g.52895918T>A | GRCh37 |
| NC_000004.10:g.52590675T>A | NCBI36 |
| NG_008891.1:g.13568A>T , LRG_204:g.13568A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381431.10:c.355A>T MANE Select | ENSP00000370839.6:p.Ile119Phe | |
| ENST00000381431.9:c.355A>T | ENSP00000370839.5:p.Ile119Phe | |
| ENST00000506357.5:c.438A>T | ||
| ENST00000514133.1:c.432A>T | ENSP00000425818.1:n.432A>T | |
| NM_000232.4:c.355A>T , LRG_204t1:c.355A>T | NP_000223.1:p.Ile119Phe | |
| XM_006714049.2:c.58A>T | XP_006714112.1:p.Ile20Phe | |
| XM_011534403.1:c.145A>T | XP_011532705.1:p.Ile49Phe | |
| XM_011534404.1:c.58A>T | XP_011532706.1:p.Ile20Phe | |
| NM_000232.5:c.355A>T MANE Select | NP_000223.1:p.Ile119Phe |