Linked Data
dbSNP Id:
rs770341238
ExAC:
11:47256448 C / G
gnomAD v2:
11-47256448-C-G
gnomAD v3:
11-47234897-C-G
gnomAD v4:
11-47234897-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47234897C>G , CM000673.2:g.47234897C>G | GRCh38 |
| NC_000011.9:g.47256448C>G , CM000673.1:g.47256448C>G | GRCh37 |
| NC_000011.8:g.47213024C>G | NCBI36 |
| NG_009365.1:g.24956C>G , LRG_467:g.24956C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256996.9:c.843C>G MANE Select | ENSP00000256996.4:p.Phe281Leu | |
| ENST00000256996.8:c.843C>G | ENSP00000256996.3:p.Phe281Leu | |
| ENST00000378600.7:c.457-2940C>G | ENSP00000367863.3:n.457-2940C>G | |
| ENST00000378601.7:c.702+225C>G | ENSP00000367864.3:n.702+225C>G | |
| ENST00000378603.7:c.651C>G | ENSP00000367866.3:p.Phe217Leu | |
| ENST00000612309.4:n.1957C>G | ||
| ENST00000614394.1:n.233C>G | ||
| ENST00000616278.4:c.556+225C>G | ENSP00000478411.1:n.556+225C>G | |
| ENST00000617022.4:n.1554-2940C>G | ||
| ENST00000617847.4:c.772C>G | ||
| ENST00000620515.1:n.46+225C>G | ||
| NM_000107.2:c.843C>G , LRG_467t1:c.843C>G | NP_000098.1:p.Phe281Leu | |
| NM_001300734.1:c.457-2940C>G | NP_001287663.1:n.457-2940C>G | |
| XR_242780.3:n.870+225C>G | ||
| XR_242780.4:n.870+225C>G | ||
| NM_000107.3:c.843C>G MANE Select | NP_000098.1:p.Phe281Leu | |
| NM_001300734.2:c.457-2940C>G | NP_001287663.1:n.457-2940C>G | |
| NM_001399874.1:c.843C>G | NP_001386803.1:p.Phe281Leu | |
| NM_001399875.1:c.843C>G | NP_001386804.1:p.Phe281Leu | |
| NM_001399876.1:c.457-2940C>G | NP_001386805.1:n.457-2940C>G | |
| NM_001399878.1:c.651C>G | NP_001386807.1:p.Phe217Leu | |
| NR_174610.1:n.1131+225C>G | ||
| NR_174611.1:n.1109+21C>G |