Linked Data
dbSNP Id:
rs754095042
ExAC:
6:15627640 G / C
gnomAD v2:
6-15627640-G-C
gnomAD v4:
6-15627409-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.15627409G>C , CM000668.2:g.15627409G>C | GRCh38 |
| NC_000006.11:g.15627640G>C , CM000668.1:g.15627640G>C | GRCh37 |
| NC_000006.10:g.15735619G>C | NCBI36 |
| NG_009309.1:g.40632C>G , LRG_588:g.40632C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344537.10:c.289C>G MANE Select | ENSP00000341680.6:p.Leu97Val | |
| ENST00000338950.9:c.289C>G | ENSP00000344718.5:p.Leu97Val | |
| ENST00000344537.9:c.289C>G | ENSP00000341680.5:p.Leu97Val | |
| ENST00000355917.7:c.238C>G | ENSP00000348183.4:p.Leu80Val | |
| ENST00000506844.1:c.*287C>G | ENSP00000424202.1:n.*287C>G | |
| ENST00000510395.5:c.*199C>G | ENSP00000424685.1:n.*199C>G | |
| ENST00000511762.2:c.184C>G | ENSP00000427473.2:p.Leu62Val | |
| ENST00000513680.5:c.*287C>G | ENSP00000424357.1:n.*287C>G | |
| ENST00000515875.5:c.238C>G | ENSP00000425495.1:p.Leu80Val | |
| ENST00000622898.4:c.184C>G | ENSP00000481997.1:p.Leu62Val | |
| NM_001271667.1:c.46C>G | NP_001258596.1:p.Leu16Val | |
| NM_001271668.1:c.238C>G | NP_001258597.1:p.Leu80Val | |
| NM_001271669.1:c.184C>G | NP_001258598.1:p.Leu62Val | |
| NM_032122.4:c.289C>G , LRG_588t1:c.289C>G | NP_115498.2:p.Leu97Val | |
| NM_183040.2:c.289C>G , LRG_588t2:c.289C>G | NP_898861.1:p.Leu97Val | |
| NR_036448.1:n.617C>G | ||
| XM_005249447.3:c.250C>G | XP_005249504.1:p.Leu84Val | |
| XM_011514936.1:c.199C>G | XP_011513238.1:p.Leu67Val | |
| XM_005249447.4:c.250C>G | XP_005249504.1:p.Leu84Val | |
| XM_011514936.3:c.199C>G | XP_011513238.1:p.Leu67Val | |
| NM_032122.5:c.289C>G MANE Select | NP_115498.2:p.Leu97Val | |
| NR_036448.2:n.587C>G | ||
| NM_001271667.2:c.46C>G | NP_001258596.1:p.Leu16Val | |
| NM_001271668.2:c.238C>G | NP_001258597.1:p.Leu80Val | |
| NM_001271669.2:c.184C>G | NP_001258598.1:p.Leu62Val | |
| NR_036448.3:n.587C>G |