gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.21526691 (NFE)
Genomes Max Group AF
0.21526691 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.86810424T>A , CM000669.2:g.86810424T>A | GRCh38 |
| NC_000007.13:g.86439740T>A , CM000669.1:g.86439740T>A | GRCh37 |
| NC_000007.12:g.86277676T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361669.7:c.1324+23308T>A MANE Select | ENSP00000355316.2:n.1324+23308T>A | |
| ENST00000361669.6:c.1324+23308T>A | ENSP00000355316.2:n.1324+23308T>A | |
| ENST00000439827.1:c.1324+23308T>A | ENSP00000398767.1:n.1324+23308T>A | |
| NM_000840.2:c.1324+23308T>A | NP_000831.2:n.1324+23308T>A | |
| XM_011516088.1:c.1324+23308T>A | XP_011514390.1:n.1324+23308T>A | |
| XM_011516089.1:c.1325-4663T>A | XP_011514391.1:n.1325-4663T>A | |
| XM_011516090.1:c.1325-22598T>A | XP_011514392.1:n.1325-22598T>A | |
| NM_001363522.1:c.1324+23308T>A | NP_001350451.1:n.1324+23308T>A | |
| NM_000840.3:c.1324+23308T>A MANE Select | NP_000831.2:n.1324+23308T>A | |
| NM_001363522.2:c.1324+23308T>A | NP_001350451.1:n.1324+23308T>A |