gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00004283 (AMR)
Exomes Max Group AF
0.00005804 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.47636144G>A , CM000682.2:g.47636144G>A | GRCh38 |
| NC_000020.10:g.46264888G>A , CM000682.1:g.46264888G>A | GRCh37 |
| NC_000020.9:g.45698295G>A | NCBI36 |
| NG_016810.1:g.139288G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371998.8:c.1758G>A MANE Select | ENSP00000361066.3:p.Gln586= | |
| ENST00000371997.3:c.1788G>A | ENSP00000361065.3:p.Gln596= | |
| ENST00000371998.7:c.1758G>A | ENSP00000361066.3:p.Gln586= | |
| ENST00000372004.7:c.1758G>A | ENSP00000361073.1:p.Gln586= | |
| NM_001174087.1:c.1758G>A | NP_001167558.1:p.Gln586= | |
| NM_001174088.1:c.1788G>A | NP_001167559.1:p.Gln596= | |
| NM_006534.3:c.1758G>A | NP_006525.2:p.Gln586= | |
| NM_181659.2:c.1758G>A | NP_858045.1:p.Gln586= | |
| NM_181659.3:c.1758G>A MANE Select | NP_858045.1:p.Gln586= | |
| NM_001174087.2:c.1758G>A | NP_001167558.1:p.Gln586= | |
| NM_001174088.2:c.1788G>A | NP_001167559.1:p.Gln596= | |
| NM_006534.4:c.1758G>A | NP_006525.2:p.Gln586= |