Linked Data
dbSNP Id:
rs761432556
ExAC:
20:25288664 G / C
gnomAD v2:
20-25288664-G-C
gnomAD v4:
20-25308028-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.25308028G>C , CM000682.2:g.25308028G>C | GRCh38 |
| NC_000020.10:g.25288664G>C , CM000682.1:g.25288664G>C | GRCh37 |
| NC_000020.9:g.25236664G>C | NCBI36 |
| NG_028119.1:g.87955C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000339157.10:c.805C>G MANE Select | ENSP00000341408.5:p.Leu269Val | |
| ENST00000376542.8:c.805C>G | ENSP00000365725.3:p.Leu269Val | |
| ENST00000465694.2:c.259C>G | ENSP00000459278.2:p.Leu87Val | |
| ENST00000671784.1:c.259C>G | ENSP00000500451.1:p.Leu87Val | |
| ENST00000671858.1:c.259C>G | ENSP00000500550.1:p.Leu87Val | |
| ENST00000672001.1:n.316C>G | ||
| ENST00000672114.1:c.259C>G | ENSP00000499945.1:p.Leu87Val | |
| ENST00000672258.1:c.259C>G | ENSP00000499868.1:p.Leu87Val | |
| ENST00000672331.1:c.259C>G | ENSP00000500286.1:p.Leu87Val | |
| ENST00000672358.1:c.259C>G | ENSP00000500062.1:p.Leu87Val | |
| ENST00000672406.1:c.*144C>G | ENSP00000500208.1:n.*144C>G | |
| ENST00000672566.1:c.334C>G | ENSP00000500106.1:p.Leu112Val | |
| ENST00000672596.1:c.259C>G | ENSP00000500290.1:p.Leu87Val | |
| ENST00000672871.1:c.259C>G | ENSP00000499949.1:p.Leu87Val | |
| ENST00000673094.1:c.259C>G | ENSP00000500257.1:p.Leu87Val | |
| ENST00000673121.1:c.361C>G | ENSP00000499839.1:p.Leu121Val | |
| ENST00000673227.1:c.259C>G | ENSP00000500514.1:p.Leu87Val | |
| ENST00000673524.1:c.367C>G | ||
| ENST00000339157.9:c.805C>G | ENSP00000341408.5:p.Leu269Val | |
| ENST00000376542.7:c.805C>G | ENSP00000365725.3:p.Leu269Val | |
| ENST00000481556.1:n.459C>G | ||
| ENST00000491682.5:c.334C>G | ENSP00000459495.1:p.Leu112Val | |
| ENST00000576316.5:c.109C>G | ENSP00000459121.1:p.Leu37Val | |
| NM_001042472.2:c.805C>G | NP_001035937.1:p.Leu269Val | |
| NM_015600.4:c.805C>G | NP_056415.1:p.Leu269Val | |
| XM_005260698.1:c.805C>G | XP_005260755.1:p.Leu269Val | |
| XM_005260699.3:c.805C>G | XP_005260756.1:p.Leu269Val | |
| XM_005260700.1:c.334C>G | XP_005260757.1:p.Leu112Val | |
| XM_011529214.1:c.805C>G | XP_011527516.1:p.Leu269Val | |
| XM_011529215.1:c.334C>G | XP_011527517.1:p.Leu112Val | |
| XM_011529216.1:c.334C>G | XP_011527518.1:p.Leu112Val | |
| XM_011529217.1:c.148C>G | XP_011527519.1:p.Leu50Val | |
| XM_011529218.1:c.148C>G | XP_011527520.1:p.Leu50Val | |
| XM_011529214.2:c.805C>G | XP_011527516.1:p.Leu269Val | |
| XM_017027796.1:c.334C>G | XP_016883285.1:p.Leu112Val | |
| XR_002958465.1:n.815C>G | ||
| XR_002958466.1:n.935C>G | ||
| XR_002958467.1:n.494C>G | ||
| NM_001042472.3:c.805C>G MANE Select | NP_001035937.1:p.Leu269Val | |
| NM_015600.5:c.805C>G | NP_056415.1:p.Leu269Val |