gnomAD v4:
Joint Max Group AF
0.00000292 (NFE)
Exomes Max Group AF
0.0000031 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86668055G>T , CM000670.2:g.86668055G>T | GRCh38 |
| NC_000008.10:g.87680283G>T , CM000670.1:g.87680283G>T | GRCh37 |
| NC_000008.9:g.87749399G>T | NCBI36 |
| NG_016980.1:g.80621C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.607C>A MANE Select | ENSP00000316605.5:p.Arg203= | |
| ENST00000681746.1:c.607C>A | ENSP00000505959.1:p.Arg203= | |
| ENST00000320005.5:c.607C>A | ENSP00000316605.5:p.Arg203= | |
| NM_019098.4:c.607C>A | NP_061971.3:p.Arg203= | |
| XM_011517138.1:c.193C>A | XP_011515440.1:p.Arg65= | |
| XM_011517138.2:c.193C>A | XP_011515440.1:p.Arg65= | |
| NM_019098.5:c.607C>A MANE Select | NP_061971.3:p.Arg203= |