ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99853495T>G , CM000670.2:g.99853495T>G | GRCh38 |
| NC_000008.10:g.100865723T>G , CM000670.1:g.100865723T>G | GRCh37 |
| NC_000008.9:g.100934899T>G | NCBI36 |
| NG_007098.2:g.845230T>G , LRG_351:g.845230T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682153.1:c.10181T>G | ENSP00000507923.1:p.Leu3394Ter | |
| ENST00000682358.1:n.10251T>G | ||
| ENST00000683334.1:c.*5863T>G | ENSP00000507369.1:n.*5863T>G | |
| ENST00000357162.7:c.10106T>G MANE Select | ENSP00000349685.2:p.Leu3369Ter | |
| ENST00000358544.7:c.10181T>G MANE Plus Clinical | ENSP00000351346.2:p.Leu3394Ter | |
| ENST00000357162.6:c.10106T>G | ENSP00000349685.2:p.Leu3369Ter | |
| ENST00000358544.6:c.10181T>G | ENSP00000351346.2:p.Leu3394Ter | |
| NM_017890.4:c.10181T>G , LRG_351t1:c.10181T>G | NP_060360.3:p.Leu3394Ter | |
| NM_152564.4:c.10106T>G , LRG_351t2:c.10106T>G | NP_689777.3:p.Leu3369Ter | |
| XM_005250800.2:c.10181T>G | XP_005250857.1:p.Leu3394Ter | |
| XM_005250801.3:c.10181T>G | XP_005250858.1:p.Leu3394Ter | |
| XM_011516848.1:c.10178T>G | XP_011515150.1:p.Leu3393Ter | |
| XM_011516849.1:c.10103T>G | XP_011515151.1:p.Leu3368Ter | |
| XM_011516850.1:c.9803T>G | XP_011515152.1:p.Leu3268Ter | |
| XM_011516851.1:c.7067T>G | XP_011515153.1:p.Leu2356Ter | |
| XM_011516852.1:c.7067T>G | XP_011515154.1:p.Leu2356Ter | |
| XM_011516854.1:c.5960T>G | XP_011515156.1:p.Leu1987Ter | |
| XM_005250800.3:c.10181T>G | XP_005250857.1:p.Leu3394Ter | |
| XM_005250801.5:c.10181T>G | XP_005250858.1:p.Leu3394Ter | |
| XM_011516848.2:c.10178T>G | XP_011515150.1:p.Leu3393Ter | |
| XM_011516849.2:c.10103T>G | XP_011515151.1:p.Leu3368Ter | |
| XM_011516850.2:c.9803T>G | XP_011515152.1:p.Leu3268Ter | |
| XM_011516851.2:c.7067T>G | XP_011515153.1:p.Leu2356Ter | |
| XM_011516852.2:c.7067T>G | XP_011515154.1:p.Leu2356Ter | |
| XM_011516854.2:c.5960T>G | XP_011515156.1:p.Leu1987Ter | |
| XM_017013109.1:c.9986T>G | XP_016868598.1:p.Leu3329Ter | |
| XM_017013111.1:c.7067T>G | XP_016868600.1:p.Leu2356Ter | |
| XM_017013112.1:c.5738T>G | XP_016868601.1:p.Leu1913Ter | |
| XM_024447074.1:c.8966T>G | XP_024302842.1:p.Leu2989Ter | |
| NM_017890.5:c.10181T>G MANE Plus Clinical | NP_060360.3:p.Leu3394Ter | |
| NM_152564.5:c.10106T>G MANE Select | NP_689777.3:p.Leu3369Ter |