Linked Data
dbSNP Id:
rs562449429
ExAC:
2:31758830 A / C
gnomAD v2:
2-31758830-A-C
gnomAD v3:
2-31533760-A-C
gnomAD v4:
2-31533760-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31533760A>C , CM000664.2:g.31533760A>C | GRCh38 |
| NC_000002.11:g.31758830A>C , CM000664.1:g.31758830A>C | GRCh37 |
| NC_000002.10:g.31612334A>C | NCBI36 |
| NG_008365.1:g.52212T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622030.2:c.288T>G MANE Select | ENSP00000477587.1:p.Phe96Leu | |
| ENST00000622030.1:c.288T>G | ENSP00000477587.1:p.Phe96Leu | |
| NM_000348.3:c.288T>G | NP_000339.2:p.Phe96Leu | |
| XM_011533068.1:c.288T>G | XP_011531370.1:p.Phe96Leu | |
| XM_011533069.1:c.66T>G | XP_011531371.1:p.Phe22Leu | |
| XM_011533070.1:c.33T>G | XP_011531372.1:p.Phe11Leu | |
| XM_011533071.1:c.33T>G | XP_011531373.1:p.Phe11Leu | |
| XM_011533072.1:c.33T>G | XP_011531374.1:p.Phe11Leu | |
| XM_011533069.2:c.66T>G | XP_011531371.1:p.Phe22Leu | |
| XM_011533072.2:c.33T>G | XP_011531374.1:p.Phe11Leu | |
| NM_000348.4:c.288T>G MANE Select | NP_000339.2:p.Phe96Leu |