Linked Data
ClinVar Variation Id:
158779
dbSNP Id:
rs201931833
ExAC:
12:49434820 G / C
gnomAD v2:
12-49434820-G-C
gnomAD v3:
12-49041037-G-C
gnomAD v4:
12-49041037-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49041037G>C , CM000674.2:g.49041037G>C | GRCh38 |
| NC_000012.11:g.49434820G>C , CM000674.1:g.49434820G>C | GRCh37 |
| NC_000012.10:g.47721087G>C | NCBI36 |
| NG_027827.1:g.19288C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683543.2:c.6733C>G | ENSP00000506726.1:p.Leu2245Val | |
| ENST00000685166.1:c.6742C>G | ENSP00000509386.1:p.Leu2248Val | |
| ENST00000689060.1:c.752C>G | ||
| ENST00000689143.1:c.406C>G | ENSP00000509839.1:p.Leu136Val | |
| ENST00000689944.1:c.842C>G | ||
| ENST00000692637.1:c.6730C>G | ENSP00000509666.1:p.Leu2244Val | |
| ENST00000301067.12:c.6733C>G MANE Select | ENSP00000301067.7:p.Leu2245Val | |
| ENST00000301067.11:c.6733C>G | ENSP00000301067.7:p.Leu2245Val | |
| NM_003482.3:c.6733C>G | NP_003473.3:p.Leu2245Val | |
| XM_005269162.3:c.6733C>G | XP_005269219.1:p.Leu2245Val | |
| XM_006719614.2:c.6742C>G | XP_006719677.1:p.Leu2248Val | |
| XM_006719616.2:c.6730C>G | XP_006719679.1:p.Leu2244Val | |
| XM_011538770.1:c.6742C>G | XP_011537072.1:p.Leu2248Val | |
| XM_011538771.1:c.6739C>G | XP_011537073.1:p.Leu2247Val | |
| XM_011538772.1:c.6733C>G | XP_011537074.1:p.Leu2245Val | |
| XM_011538773.1:c.6730C>G | XP_011537075.1:p.Leu2244Val | |
| XM_011538774.1:c.6721C>G | XP_011537076.1:p.Leu2241Val | |
| XM_011538775.1:c.6742C>G | XP_011537077.1:p.Leu2248Val | |
| XM_011538776.1:c.6649C>G | XP_011537078.1:p.Leu2217Val | |
| XR_944740.1:n.9062C>G | ||
| XM_005269162.4:c.6733C>G | XP_005269219.1:p.Leu2245Val | |
| XM_006719614.4:c.6742C>G | XP_006719677.1:p.Leu2248Val | |
| XM_006719616.3:c.6730C>G | XP_006719679.1:p.Leu2244Val | |
| XM_011538770.2:c.6742C>G | XP_011537072.1:p.Leu2248Val | |
| XM_011538771.2:c.6739C>G | XP_011537073.1:p.Leu2247Val | |
| XM_011538772.2:c.6733C>G | XP_011537074.1:p.Leu2245Val | |
| XM_011538773.2:c.6730C>G | XP_011537075.1:p.Leu2244Val | |
| XM_011538774.2:c.6721C>G | XP_011537076.1:p.Leu2241Val | |
| XM_011538776.2:c.6649C>G | XP_011537078.1:p.Leu2217Val | |
| XR_001748874.1:n.8051C>G | ||
| NM_003482.4:c.6733C>G MANE Select | NP_003473.3:p.Leu2245Val |