gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00423072 (EAS)
Genomes Max Group AF
0.00537297 (EAS)
Exomes Max Group AF
0.00389344 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.18575388G>A , CM000685.2:g.18575388G>A | GRCh38 |
| NC_000023.10:g.18593508G>A , CM000685.1:g.18593508G>A | GRCh37 |
| NC_000023.9:g.18503429G>A | NCBI36 |
| NG_008475.1:g.154784G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000623535.2:c.180G>A MANE Select | ENSP00000485244.1:p.Glu60= | |
| ENST00000635828.1:c.180G>A | ENSP00000490170.1:p.Glu60= | |
| ENST00000637881.1:c.180G>A | ENSP00000489879.1:p.Glu60= | |
| ENST00000674046.1:c.180G>A | ENSP00000501174.1:p.Glu60= | |
| ENST00000379989.6:c.180G>A | ENSP00000369325.3:p.Glu60= | |
| ENST00000379996.7:c.180G>A | ENSP00000369332.3:p.Glu60= | |
| ENST00000463994.4:c.180G>A | ENSP00000485184.1:p.Glu60= | |
| ENST00000623364.3:c.180G>A | ENSP00000485581.1:p.Glu60= | |
| ENST00000623535.1:c.180G>A | ENSP00000485244.1:p.Glu60= | |
| ENST00000624700.3:c.180G>A | ENSP00000485359.1:p.Glu60= | |
| NM_001037343.1:c.180G>A | NP_001032420.1:p.Glu60= | |
| NM_003159.2:c.180G>A | NP_003150.1:p.Glu60= | |
| XM_011545569.1:c.180G>A | XP_011543871.1:p.Glu60= | |
| XM_011545570.1:c.48G>A | XP_011543872.1:p.Glu16= | |
| XR_950484.1:n.432G>A | ||
| NM_001323289.1:c.180G>A | NP_001310218.1:p.Glu60= | |
| NM_001323289.2:c.180G>A MANE Select | NP_001310218.1:p.Glu60= | |
| NM_001037343.2:c.180G>A | NP_001032420.1:p.Glu60= | |
| NM_003159.3:c.180G>A | NP_003150.1:p.Glu60= |