Linked Data
dbSNP Id:
rs745553711
ExAC:
4:74283975 C / G
gnomAD v2:
4-74283975-C-G
gnomAD v4:
4-73418258-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73418258C>G , CM000666.2:g.73418258C>G | GRCh38 |
| NC_000004.11:g.74283975C>G , CM000666.1:g.74283975C>G | GRCh37 |
| NC_000004.10:g.74502839C>G | NCBI36 |
| NG_009291.1:g.19004C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295897.9:c.1599C>G MANE Select | ENSP00000295897.4:p.Phe533Leu | |
| ENST00000295897.8:c.1599C>G | ENSP00000295897.4:p.Phe533Leu | |
| ENST00000401494.7:c.1254C>G | ENSP00000384695.3:p.Phe418Leu | |
| ENST00000415165.6:c.1023C>G | ENSP00000401820.2:p.Phe341Leu | |
| ENST00000476441.6:c.*878C>G | ENSP00000423727.1:n.*878C>G | |
| ENST00000486939.1:n.253C>G | ||
| ENST00000503124.5:c.1149C>G | ENSP00000421027.1:p.Phe383Leu | |
| ENST00000505649.5:n.1146C>G | ||
| ENST00000509063.5:c.1599C>G | ENSP00000422784.1:p.Phe533Leu | |
| ENST00000511370.1:c.1132C>G | ||
| ENST00000621085.4:c.960C>G | ENSP00000483421.1:p.Phe320Leu | |
| ENST00000621628.4:c.960C>G | ENSP00000480485.1:p.Phe320Leu | |
| NM_000477.5:c.1599C>G | NP_000468.1:p.Phe533Leu | |
| NM_000477.6:c.1599C>G | NP_000468.1:p.Phe533Leu | |
| NM_000477.7:c.1599C>G MANE Select | NP_000468.1:p.Phe533Leu |