gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.13222617 (NFE)
Genomes Max Group AF
0.13222617 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.137322384G>A , CM000664.2:g.137322384G>A | GRCh38 |
| NC_000002.11:g.138079954G>A , CM000664.1:g.138079954G>A | GRCh37 |
| NC_000002.10:g.137796424G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409968.6:c.2500+46358G>A MANE Select | ENSP00000387145.1:n.2500+46358G>A | |
| ENST00000272643.7:c.2500+46358G>A | ENSP00000272643.4:n.2500+46358G>A | |
| ENST00000409968.5:c.2500+46358G>A | ENSP00000387145.1:n.2500+46358G>A | |
| ENST00000413152.3:c.2407+46358G>A | ENSP00000413841.3:n.2407+46358G>A | |
| NM_001080427.1:c.2407+46358G>A | NP_001073896.1:n.2407+46358G>A | |
| NM_001316349.1:c.2500+46358G>A | NP_001303278.1:n.2500+46358G>A | |
| XM_017005049.1:c.703+46358G>A | XP_016860538.1:n.703+46358G>A | |
| NM_001316349.2:c.2500+46358G>A MANE Select | NP_001303278.1:n.2500+46358G>A |