Linked Data
dbSNP Id:
rs913512304
gnomAD v2:
11-113803168-A-T
gnomAD v3:
11-113932446-A-T
gnomAD v4:
11-113932446-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.113932446A>T , CM000673.2:g.113932446A>T | GRCh38 |
| NC_000011.9:g.113803168A>T , CM000673.1:g.113803168A>T | GRCh37 |
| NC_000011.8:g.113308378A>T | NCBI36 |
| NG_011483.1:g.32580A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260191.8:c.526A>T MANE Select | ENSP00000260191.2:p.Ile176Phe | |
| ENST00000260191.7:c.526A>T | ENSP00000260191.2:p.Ile176Phe | |
| ENST00000260191.6:c.526A>T | ENSP00000260191.2:p.Ile176Phe | |
| ENST00000537778.5:c.493A>T | ENSP00000443118.1:p.Ile165Phe | |
| ENST00000543092.1:c.312A>T | ||
| NM_006028.4:c.526A>T | NP_006019.1:p.Ile176Phe | |
| XM_011543063.1:c.493A>T | XP_011541365.1:p.Ile165Phe | |
| XM_011543064.1:c.325A>T | XP_011541366.1:p.Ile109Phe | |
| XM_011543065.1:c.319A>T | XP_011541367.1:p.Ile107Phe | |
| XM_011543066.1:c.493A>T | XP_011541368.1:p.Ile165Phe | |
| NM_001363563.1:c.493A>T | NP_001350492.1:p.Ile165Phe | |
| XM_017018552.2:c.319A>T | XP_016874041.1:p.Ile107Phe | |
| XM_024448767.1:c.232A>T | XP_024304535.1:p.Ile78Phe | |
| XR_001748034.2:n.777A>T | ||
| NM_001363563.2:c.493A>T | NP_001350492.1:p.Ile165Phe | |
| NM_006028.5:c.526A>T MANE Select | NP_006019.1:p.Ile176Phe |