gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00035401 (AMR)
Genomes Max Group AF
0.00035401 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.223982990T>A , CM000664.2:g.223982990T>A | GRCh38 |
| NC_000002.11:g.224847707T>A , CM000664.1:g.224847707T>A | GRCh37 |
| NC_000002.10:g.224555951T>A | NCBI36 |
| NG_032907.1:g.61330A>T | |
| NG_032907.2:g.61330A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258405.9:c.885-209A>T | ENSP00000258405.4:n.885-209A>T | |
| ENST00000409304.6:c.885-209A>T MANE Select | ENSP00000386412.1:n.885-209A>T | |
| ENST00000258405.8:c.885-209A>T | ENSP00000258405.4:n.885-209A>T | |
| ENST00000409304.5:c.885-209A>T | ENSP00000386412.1:n.885-209A>T | |
| ENST00000409840.7:c.885-209A>T | ENSP00000386969.3:n.885-209A>T | |
| ENST00000447280.6:c.921-209A>T | ENSP00000415786.2:n.921-209A>T | |
| ENST00000478966.1:n.318-209A>T | ||
| NM_001136528.1:c.885-209A>T | NP_001130000.1:n.885-209A>T | |
| NM_001136530.1:c.921-209A>T | NP_001130002.1:n.921-209A>T | |
| NM_006216.3:c.885-209A>T | NP_006207.1:n.885-209A>T | |
| NR_073116.1:n.1546-209A>T | ||
| XM_005246641.2:c.921-209A>T | XP_005246698.1:n.921-209A>T | |
| XM_005246642.2:c.885-209A>T | XP_005246699.1:n.885-209A>T | |
| XM_017004330.1:c.885-209A>T | XP_016859819.1:n.885-209A>T | |
| XM_017004332.2:c.885-209A>T | XP_016859821.1:n.885-209A>T | |
| NM_001136528.2:c.885-209A>T MANE Select | NP_001130000.1:n.885-209A>T | |
| NM_006216.4:c.885-209A>T | NP_006207.1:n.885-209A>T | |
| NR_073116.2:n.1546-209A>T |