Linked Data
ClinVar Variation Id:
2273300
ClinVar RCV Id:
RCV002822110
dbSNP Id:
rs367841559
ExAC:
6:74331610 A / G
gnomAD v2:
6-74331610-A-G
gnomAD v4:
6-73621887-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.73621887A>G , CM000668.2:g.73621887A>G | GRCh38 |
| NC_000006.11:g.74331610A>G , CM000668.1:g.74331610A>G | GRCh37 |
| NC_000006.10:g.74388331A>G | NCBI36 |
| NG_008272.1:g.37128T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355773.6:c.895T>C MANE Select | ENSP00000348019.5:p.Phe299Leu | |
| ENST00000355773.5:c.895T>C | ENSP00000348019.5:p.Phe299Leu | |
| NM_012434.4:c.895T>C | NP_036566.1:p.Phe299Leu | |
| XM_005248710.2:c.844T>C | XP_005248767.1:p.Phe282Leu | |
| XM_005248711.1:c.697T>C | XP_005248768.1:p.Phe233Leu | |
| XM_011535750.1:c.895T>C | XP_011534052.1:p.Phe299Leu | |
| NM_012434.5:c.895T>C MANE Select | NP_036566.1:p.Phe299Leu | |
| NM_001382629.1:c.664T>C | NP_001369558.1:p.Phe222Leu | |
| NM_001382630.1:c.895T>C | NP_001369559.1:p.Phe299Leu | |
| NM_001382631.1:c.916T>C | NP_001369560.1:p.Phe306Leu | |
| NM_001382632.1:c.808T>C | NP_001369561.1:p.Phe270Leu | |
| NM_001382633.1:c.895T>C | NP_001369562.1:p.Phe299Leu | |
| NM_001382634.1:c.820-6440T>C | NP_001369563.1:n.820-6440T>C | |
| NM_001382635.1:c.892T>C | NP_001369564.1:p.Phe298Leu | |
| NM_001382636.1:c.577T>C | NP_001369565.1:p.Phe193Leu |