Linked Data
dbSNP Id:
rs780213985
ExAC:
11:67803946 C / G
gnomAD v2:
11-67803946-C-G
gnomAD v4:
11-68036479-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68036479C>G , CM000673.2:g.68036479C>G | GRCh38 |
| NC_000011.9:g.67803946C>G , CM000673.1:g.67803946C>G | GRCh37 |
| NC_000011.8:g.67560522C>G | NCBI36 |
| NG_007878.1:g.2464C>G , LRG_115:g.2464C>G | |
| NG_017040.1:g.10863C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313468.10:c.519C>G MANE Select | ENSP00000315774.5:p.Phe173Leu | |
| ENST00000313468.9:c.519C>G | ENSP00000315774.5:p.Phe173Leu | |
| ENST00000524810.5:c.451C>G | ||
| ENST00000526339.5:c.519C>G | ENSP00000436287.1:p.Phe173Leu | |
| ENST00000526446.5:c.*574C>G | ENSP00000433645.1:n.*574C>G | |
| ENST00000528492.1:c.81C>G | ENSP00000432848.1:p.Phe27Leu | |
| ENST00000531282.1:n.371C>G | ||
| NM_002496.3:c.519C>G | NP_002487.1:p.Phe173Leu | |
| XM_005274013.1:c.519C>G | XP_005274070.1:p.Phe173Leu | |
| XM_005274014.1:c.519C>G | XP_005274071.1:p.Phe173Leu | |
| XM_005274015.1:c.399C>G | XP_005274072.1:p.Phe133Leu | |
| XM_011545053.1:c.519C>G | XP_011543355.1:p.Phe173Leu | |
| NM_002496.4:c.519C>G MANE Select | NP_002487.1:p.Phe173Leu |