gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0002636 (AMR)
Genomes Max Group AF
0.00002271 (AMR)
Exomes Max Group AF
0.00031741 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.823717T>C , CM000673.2:g.823717T>C | GRCh38 |
| NC_000011.9:g.823717T>C , CM000673.1:g.823717T>C | GRCh37 |
| NC_000011.8:g.813717T>C | NCBI36 |
| NG_023394.1:g.9817T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336615.9:c.781T>C MANE Select | ENSP00000337701.4:p.Leu261= | |
| ENST00000336615.8:c.781T>C | ENSP00000337701.4:p.Leu261= | |
| ENST00000525250.5:n.1493T>C | ||
| ENST00000526083.1:n.70T>C | ||
| ENST00000529255.1:n.69T>C | ||
| ENST00000617551.1:c.-364T>C | ENSP00000481602.1:n.-364T>C | |
| NM_020376.3:c.781T>C | NP_065109.1:p.Leu261= | |
| XM_006718265.2:c.781T>C | XP_006718328.1:p.Leu261= | |
| XM_006718266.2:c.781T>C | XP_006718329.1:p.Leu261= | |
| XM_006718265.3:c.781T>C | XP_006718328.1:p.Leu261= | |
| XM_006718266.3:c.781T>C | XP_006718329.1:p.Leu261= | |
| XM_017018028.1:c.781T>C | XP_016873517.1:p.Leu261= | |
| XM_024448618.1:c.781T>C | XP_024304386.1:p.Leu261= | |
| NM_020376.4:c.781T>C MANE Select | NP_065109.1:p.Leu261= |