gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000875 (SAS)
Exomes Max Group AF
0.00000924 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.94447276G>T , CM000673.2:g.94447276G>T | GRCh38 |
| NC_000011.9:g.94180442G>T , CM000673.1:g.94180442G>T | GRCh37 |
| NC_000011.8:g.93820090G>T | NCBI36 |
| NG_007261.1:g.51599C>A , LRG_85:g.51599C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323929.8:c.1726C>A MANE Select | ENSP00000325863.4:p.Arg576= | |
| ENST00000323929.7:c.1726C>A | ENSP00000325863.3:p.Arg576= | |
| ENST00000323977.7:c.1726C>A | ENSP00000326094.3:p.Arg576= | |
| ENST00000393241.8:c.1726C>A | ENSP00000376933.4:p.Arg576= | |
| ENST00000407439.7:c.1735C>A | ENSP00000385614.3:p.Arg579= | |
| ENST00000535120.1:n.25C>A | ||
| NM_005590.3:c.1726C>A | NP_005581.2:p.Arg576= | |
| NM_005591.3:c.1726C>A , LRG_85t1:c.1726C>A | NP_005582.1:p.Arg576= | |
| XM_005274008.2:c.1258C>A | XP_005274065.1:p.Arg420= | |
| XM_006718842.2:c.1726C>A | XP_006718905.1:p.Arg576= | |
| XM_011542837.1:c.1726C>A | XP_011541139.1:p.Arg576= | |
| XR_947828.1:n.2022C>A | ||
| NM_001330347.1:c.1726C>A | NP_001317276.1:p.Arg576= | |
| XM_005274008.3:c.1258C>A | XP_005274065.1:p.Arg420= | |
| XM_006718842.3:c.1726C>A | XP_006718905.1:p.Arg576= | |
| XM_011542837.2:c.1726C>A | XP_011541139.1:p.Arg576= | |
| XM_017017772.1:c.1726C>A | XP_016873261.1:p.Arg576= | |
| XR_947828.2:n.2022C>A | ||
| NM_001330347.2:c.1726C>A | NP_001317276.1:p.Arg576= | |
| NM_005590.4:c.1726C>A | NP_005581.2:p.Arg576= | |
| NM_005591.4:c.1726C>A MANE Select | NP_005582.1:p.Arg576= |