Linked Data
dbSNP Id:
rs759660724
ExAC:
1:115222286 A / G
gnomAD v2:
1-115222286-A-G
gnomAD v4:
1-114679665-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114679665A>G , CM000663.2:g.114679665A>G | GRCh38 |
| NC_000001.10:g.115222286A>G , CM000663.1:g.115222286A>G | GRCh37 |
| NC_000001.9:g.115023809A>G | NCBI36 |
| NG_008012.1:g.20891T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369538.4:c.799T>C | ENSP00000358551.4:p.Phe267Leu | |
| ENST00000520113.7:c.811T>C MANE Select | ENSP00000430075.3:p.Phe271Leu | |
| ENST00000637080.1:c.594T>C | ENSP00000489753.1:n.594T>C | |
| ENST00000639077.1:n.476T>C | ||
| ENST00000369538.3:c.898T>C | ENSP00000358551.3:p.Phe300Leu | |
| ENST00000520113.6:c.910T>C | ENSP00000430075.2:p.Phe304Leu | |
| NM_000036.2:c.910T>C | NP_000027.2:p.Phe304Leu | |
| NM_001172626.1:c.898T>C | NP_001166097.1:p.Phe300Leu | |
| NM_000036.3:c.811T>C MANE Select | NP_000027.3:p.Phe271Leu | |
| NM_001172626.2:c.799T>C | NP_001166097.2:p.Phe267Leu |