Linked Data
dbSNP Id:
rs757151603
ExAC:
11:61213501 G / A
gnomAD v2:
11-61213501-G-A
gnomAD v4:
11-61446029-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61446029G>A , CM000673.2:g.61446029G>A | GRCh38 |
| NC_000011.9:g.61213501G>A , CM000673.1:g.61213501G>A | GRCh37 |
| NC_000011.8:g.60970077G>A | NCBI36 |
| NG_023393.1:g.20905G>A , LRG_519:g.20905G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301761.7:c.459G>A MANE Select | ENSP00000301761.3:p.Leu153= | |
| ENST00000301761.6:c.459G>A | ENSP00000301761.2:p.Leu153= | |
| ENST00000536670.5:n.396+7916G>A | ||
| ENST00000537782.5:c.*105G>A | ENSP00000469951.1:n.*105G>A | |
| ENST00000538594.5:c.370+7916G>A | ENSP00000440939.1:n.370+7916G>A | |
| ENST00000541135.5:c.377+7909G>A | ENSP00000443130.1:n.377+7909G>A | |
| ENST00000542074.1:c.*38G>A | ENSP00000469670.1:n.*38G>A | |
| ENST00000542794.5:c.*461G>A | ENSP00000439983.1:n.*461G>A | |
| ENST00000543044.2:c.423G>A | ENSP00000440219.1:p.Leu141= | |
| ENST00000543265.1:c.*82G>A | ENSP00000443660.1:n.*82G>A | |
| ENST00000544025.5:n.465+7916G>A | ||
| ENST00000544801.5:c.370+7916G>A | ENSP00000442581.1:n.370+7916G>A | |
| ENST00000544880.1:n.374+7916G>A | ||
| NM_017841.2:c.459G>A , LRG_519t1:c.459G>A | NP_060311.1:p.Leu153= | |
| NM_017841.4:c.459G>A MANE Select | NP_060311.1:p.Leu153= |