MyVariant.info:
GRCh37
chr16:g.14042081A>G
gnomAD v4:
Joint Max Group AF
0.00000183 (NFE)
Exomes Max Group AF
0.00000194 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13948224A>G , CM000678.2:g.13948224A>G | GRCh38 |
| NC_000016.9:g.14042081A>G , CM000678.1:g.14042081A>G | GRCh37 |
| NC_000016.8:g.13949582A>G | NCBI36 |
| NG_011442.1:g.33068A>G , LRG_463:g.33068A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682617.1:c.2766A>G | ENSP00000507912.1:p.Leu922= | |
| ENST00000683962.1:c.*2322A>G | ENSP00000506854.1:n.*2322A>G | |
| ENST00000311895.8:c.2628A>G MANE Select | ENSP00000310520.7:p.Leu876= | |
| ENST00000311895.7:c.2628A>G | ENSP00000310520.7:p.Leu876= | |
| ENST00000389138.7:n.1905A>G | ||
| NM_005236.2:c.2628A>G , LRG_463t1:c.2628A>G | NP_005227.1:p.Leu876= | |
| XM_011522424.1:c.2766A>G | XP_011520726.1:p.Leu922= | |
| XM_011522425.1:c.2085A>G | XP_011520727.1:p.Leu695= | |
| XM_011522426.1:c.1839A>G | XP_011520728.1:p.Leu613= | |
| XM_011522427.1:c.1278A>G | XP_011520729.1:p.Leu426= | |
| XR_932805.1:n.2787A>G | ||
| XM_011522424.3:c.2766A>G | XP_011520726.1:p.Leu922= | |
| XM_017023043.2:c.1839A>G | XP_016878532.1:p.Leu613= | |
| NM_005236.3:c.2628A>G MANE Select | NP_005227.1:p.Leu876= |