gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00004362 (EAS)
Exomes Max Group AF
0.00003361 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.156344539G>A , CM000667.2:g.156344539G>A | GRCh38 |
| NC_000005.9:g.155771549G>A , CM000667.1:g.155771549G>A | GRCh37 |
| NC_000005.8:g.155704127G>A | NCBI36 |
| NG_008693.2:g.479196G>A , LRG_205:g.479196G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337851.9:c.54G>A MANE Select | ENSP00000338343.4:p.Val18= | |
| ENST00000337851.8:c.54G>A | ENSP00000338343.4:p.Val18= | |
| ENST00000435422.7:c.51G>A | ENSP00000403003.2:p.Val17= | |
| ENST00000517913.5:c.54G>A | ENSP00000429378.1:p.Val18= | |
| ENST00000524347.2:c.54G>A | ENSP00000430794.1:p.Val18= | |
| NM_000337.5:c.54G>A , LRG_205t1:c.54G>A | NP_000328.2:p.Val18= | |
| NM_001128209.1:c.51G>A | NP_001121681.1:p.Val17= | |
| NM_172244.2:c.54G>A | NP_758447.1:p.Val18= | |
| XM_005265966.3:c.54G>A | XP_005266023.1:p.Val18= | |
| XM_005265967.1:c.54G>A | XP_005266024.1:p.Val18= | |
| XM_006714911.2:c.54G>A | XP_006714974.1:p.Val18= | |
| XM_011534621.1:c.51G>A | XP_011532923.1:p.Val17= | |
| XR_941123.1:n.254+2914C>T | ||
| XM_005265966.5:c.54G>A | XP_005266023.1:p.Val18= | |
| XM_005265967.2:c.54G>A | XP_005266024.1:p.Val18= | |
| XM_011534621.2:c.51G>A | XP_011532923.1:p.Val17= | |
| XM_017009723.2:c.54G>A | XP_016865212.1:p.Val18= | |
| XM_017009724.1:c.54G>A | XP_016865213.1:p.Val18= | |
| NM_001128209.2:c.51G>A | NP_001121681.1:p.Val17= | |
| NM_172244.3:c.54G>A | NP_758447.1:p.Val18= | |
| NM_000337.6:c.54G>A MANE Select | NP_000328.2:p.Val18= |