Linked Data
dbSNP Id:
rs371786477
ExAC:
2:113514285 T / A
gnomAD v2:
2-113514285-T-A
gnomAD v4:
2-112756708-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.112756708T>A , CM000664.2:g.112756708T>A | GRCh38 |
| NC_000002.11:g.113514285T>A , CM000664.1:g.113514285T>A | GRCh37 |
| NC_000002.10:g.113230756T>A | NCBI36 |
| NG_041820.1:g.12970A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302450.11:c.663A>T MANE Select | ENSP00000305204.6:p.Leu221Phe | |
| ENST00000302450.10:c.663A>T | ENSP00000305204.6:p.Leu221Phe | |
| ENST00000435431.5:c.478+185A>T | ENSP00000414834.1:n.478+185A>T | |
| NM_001304361.1:c.168A>T | NP_001291290.1:p.Leu56Phe | |
| NM_152515.4:c.663A>T | NP_689728.3:p.Leu221Phe | |
| NR_130712.1:n.557+185A>T | ||
| XM_011510666.1:c.168A>T | XP_011508968.1:p.Leu56Phe | |
| XM_011510666.2:c.168A>T | XP_011508968.1:p.Leu56Phe | |
| NM_152515.5:c.663A>T MANE Select | NP_689728.3:p.Leu221Phe | |
| NM_001304361.2:c.168A>T | NP_001291290.1:p.Leu56Phe | |
| NR_130712.2:n.489+185A>T |