gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.46763579 (AFR)
Genomes Max Group AF
0.46763579 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.95096472T>C , CM000674.2:g.95096472T>C | GRCh38 |
| NC_000012.11:g.95490248T>C , CM000674.1:g.95490248T>C | GRCh37 |
| NC_000012.10:g.94014379T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343958.9:c.3498-1778A>G MANE Select | ENSP00000344446.4:n.3498-1778A>G | |
| ENST00000343958.8:c.3498-1778A>G | ENSP00000344446.4:n.3498-1778A>G | |
| ENST00000451107.3:c.*893-1778A>G | ENSP00000408291.3:n.*893-1778A>G | |
| ENST00000546711.5:c.3498-1778A>G | ENSP00000450342.1:n.3498-1778A>G | |
| ENST00000549499.1:c.3498-1778A>G | ENSP00000449005.1:n.3498-1778A>G | |
| ENST00000551521.5:c.486-1778A>G | ENSP00000450240.1:n.486-1778A>G | |
| NM_018351.3:c.3498-1778A>G | NP_060821.3:n.3498-1778A>G | |
| XR_002957422.1:n.318-6691T>C | ||
| NM_018351.4:c.3498-1778A>G MANE Select | NP_060821.3:n.3498-1778A>G |