gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00004863 (NFE)
Exomes Max Group AF
0.00005161 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.18083605A>G , CM000684.2:g.18083605A>G | GRCh38 |
| NC_000022.10:g.18566371A>G , CM000684.1:g.18566371A>G | GRCh37 |
| NC_000022.9:g.16946371A>G | NCBI36 |
| NG_008339.1:g.10686A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399744.8:c.540A>G MANE Select | ENSP00000382648.4:p.Leu180= | |
| ENST00000474897.6:c.540A>G | ENSP00000434235.2:p.Leu180= | |
| ENST00000329627.11:c.540A>G | ENSP00000331106.5:p.Leu180= | |
| ENST00000399744.7:c.540A>G | ENSP00000382648.3:p.Leu180= | |
| ENST00000428061.2:c.540A>G | ENSP00000412441.2:p.Leu180= | |
| ENST00000474897.5:c.371+3591A>G | ENSP00000434235.1:n.371+3591A>G | |
| ENST00000610387.4:c.540A>G | ENSP00000482091.1:p.Leu180= | |
| NM_001127649.2:c.540A>G | NP_001121121.1:p.Leu180= | |
| NM_001199319.1:c.540A>G | NP_001186248.1:p.Leu180= | |
| NM_017929.5:c.540A>G | NP_060399.1:p.Leu180= | |
| NM_001127649.3:c.540A>G MANE Select | NP_001121121.1:p.Leu180= | |
| NM_001199319.2:c.540A>G | NP_001186248.1:p.Leu180= | |
| NM_017929.6:c.540A>G | NP_060399.1:p.Leu180= |