Linked Data
dbSNP Id:
rs755945494
ExAC:
4:74272476 C / G
gnomAD v2:
4-74272476-C-G
gnomAD v3:
4-73406759-C-G
gnomAD v4:
4-73406759-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73406759C>G , CM000666.2:g.73406759C>G | GRCh38 |
| NC_000004.11:g.74272476C>G , CM000666.1:g.74272476C>G | GRCh37 |
| NC_000004.10:g.74491340C>G | NCBI36 |
| NG_009291.1:g.7505C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295897.9:c.268C>G MANE Select | ENSP00000295897.4:p.Leu90Val | |
| ENST00000295897.8:c.268C>G | ENSP00000295897.4:p.Leu90Val | |
| ENST00000401494.7:c.137+1586C>G | ENSP00000384695.3:n.137+1586C>G | |
| ENST00000415165.6:c.137+1586C>G | ENSP00000401820.2:n.137+1586C>G | |
| ENST00000441319.5:c.274C>G | ENSP00000392541.1:p.Leu92Val | |
| ENST00000476441.6:c.79+2353C>G | ENSP00000423727.1:n.79+2353C>G | |
| ENST00000503124.5:c.30C>G | ENSP00000421027.1:p.His10Gln | |
| ENST00000509063.5:c.268C>G | ENSP00000422784.1:p.Leu90Val | |
| ENST00000510166.5:n.304C>G | ||
| ENST00000514786.1:n.237C>G | ||
| ENST00000515133.5:n.309C>G | ||
| ENST00000621085.4:c.268C>G | ENSP00000483421.1:p.Leu90Val | |
| ENST00000621628.4:c.268C>G | ENSP00000480485.1:p.Leu90Val | |
| NM_000477.5:c.268C>G | NP_000468.1:p.Leu90Val | |
| NM_000477.6:c.268C>G | NP_000468.1:p.Leu90Val | |
| NM_000477.7:c.268C>G MANE Select | NP_000468.1:p.Leu90Val |