Linked Data
dbSNP Id:
rs780299397
ExAC:
3:93617322 G / T
gnomAD v2:
3-93617322-G-T
gnomAD v4:
3-93898478-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.93898478G>T , CM000665.2:g.93898478G>T | GRCh38 |
| NC_000003.11:g.93617322G>T , CM000665.1:g.93617322G>T | GRCh37 |
| NC_000003.10:g.95100012G>T | NCBI36 |
| NG_009813.1:g.80613C>A , LRG_572:g.80613C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348974.5:c.819C>A | ENSP00000330021.7:p.Phe273Leu | |
| ENST00000394236.9:c.819C>A MANE Select | ENSP00000377783.3:p.Phe273Leu | |
| ENST00000407433.6:c.774C>A | ENSP00000385794.2:p.Phe258Leu | |
| ENST00000647936.1:c.819C>A | ENSP00000496822.1:p.Phe273Leu | |
| ENST00000648381.1:n.987C>A | ||
| ENST00000648853.1:c.777C>A | ENSP00000497262.1:p.Phe259Leu | |
| ENST00000649103.1:c.918C>A | ENSP00000497962.1:n.918C>A | |
| ENST00000650591.1:c.915C>A | ENSP00000497376.1:p.Phe305Leu | |
| ENST00000394236.7:c.819C>A | ENSP00000377783.3:p.Phe273Leu | |
| ENST00000407433.5:c.426C>A | ENSP00000385794.1:p.Phe142Leu | |
| NM_000313.3:c.819C>A , LRG_572t1:c.819C>A | NP_000304.2:p.Phe273Leu | |
| NM_001314077.1:c.915C>A , LRG_572t2:c.915C>A | NP_001301006.1:p.Phe305Leu | |
| NM_000313.4:c.819C>A MANE Select | NP_000304.2:p.Phe273Leu | |
| NM_001314077.2:c.915C>A | NP_001301006.1:p.Phe305Leu |