gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00101931 (MID)
Genomes Max Group AF
0.0002792 (AFR)
Exomes Max Group AF
0.00107105 (MID)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21317780G>A , CM000676.2:g.21317780G>A | GRCh38 |
| NC_000014.8:g.21785939G>A , CM000676.1:g.21785939G>A | GRCh37 |
| NC_000014.7:g.20855779G>A | NCBI36 |
| NG_008933.1:g.34804G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400017.7:c.1236G>A MANE Select | ENSP00000382895.2:p.Gln412= | |
| ENST00000382933.8:c.162G>A | ENSP00000372391.4:p.Gln54= | |
| ENST00000400017.6:c.1236G>A | ENSP00000382895.2:p.Gln412= | |
| ENST00000556336.5:c.1155G>A | ENSP00000450445.1:p.Gln385= | |
| ENST00000557351.1:c.162G>A | ENSP00000452215.1:p.Gln54= | |
| ENST00000557771.5:c.1155G>A | ENSP00000451219.1:p.Gln385= | |
| NM_020366.3:c.1236G>A | NP_065099.3:p.Gln412= | |
| XM_005267879.2:c.162G>A | XP_005267936.1:p.Gln54= | |
| XM_005267880.2:c.162G>A | XP_005267937.1:p.Gln54= | |
| XM_011536978.1:c.162G>A | XP_011535280.1:p.Gln54= | |
| XM_011536979.1:c.162G>A | XP_011535281.1:p.Gln54= | |
| XM_011536980.1:c.162G>A | XP_011535282.1:p.Gln54= | |
| XM_011536981.1:c.162G>A | XP_011535283.1:p.Gln54= | |
| XM_011536982.1:c.162G>A | XP_011535284.1:p.Gln54= | |
| XM_011536983.1:c.1203G>A | XP_011535285.1:p.Gln401= | |
| XM_017021473.1:c.162G>A | XP_016876962.1:p.Gln54= | |
| XM_024449663.1:c.162G>A | XP_024305431.1:p.Gln54= | |
| XM_024449664.1:c.162G>A | XP_024305432.1:p.Gln54= | |
| XM_024449665.1:c.162G>A | XP_024305433.1:p.Gln54= | |
| XM_024449666.1:c.162G>A | XP_024305434.1:p.Gln54= | |
| NM_001377523.1:c.162G>A | NP_001364452.1:p.Gln54= | |
| NM_001377948.1:c.162G>A | NP_001364877.1:p.Gln54= | |
| NM_001377949.1:c.162G>A | NP_001364878.1:p.Gln54= | |
| NM_001377950.1:c.162G>A | NP_001364879.1:p.Gln54= | |
| NM_020366.4:c.1236G>A MANE Select | NP_065099.3:p.Gln412= |