gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000124 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.113812320T>C , CM000663.2:g.113812320T>C | GRCh38 |
| NC_000001.10:g.114354942T>C , CM000663.1:g.114354942T>C | GRCh37 |
| NC_000001.9:g.114156465T>C | NCBI36 |
| NG_011432.1:g.64434A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261441.9:c.93A>G MANE Select | ENSP00000261441.5:p.Arg31= | |
| ENST00000612242.4:c.93A>G | ENSP00000479490.1:p.Arg31= | |
| NM_018364.4:c.93A>G | NP_060834.2:p.Arg31= | |
| NR_130896.1:n.157A>G | ||
| XM_017001518.2:c.93A>G | XP_016857007.1:p.Arg31= | |
| NM_018364.5:c.93A>G MANE Select | NP_060834.2:p.Arg31= | |
| NR_130896.2:n.157A>G |