gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.07753125 (EAS)
Genomes Max Group AF
0.07753125 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.47898144T>G , CM000670.2:g.47898144T>G | GRCh38 |
| NC_000008.10:g.48810704T>G , CM000670.1:g.48810704T>G | GRCh37 |
| NC_000008.9:g.48973257T>G | NCBI36 |
| NG_023435.1:g.67040A>C , LRG_162:g.67040A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000314191.7:c.3464+326A>C MANE Select | ENSP00000313420.3:n.3464+326A>C | |
| ENST00000314191.6:c.3464+326A>C | ENSP00000313420.3:n.3464+326A>C | |
| ENST00000338368.7:c.3464+326A>C | ENSP00000345182.4:n.3464+326A>C | |
| NM_001081640.1:c.3464+326A>C | NP_001075109.1:n.3464+326A>C | |
| NM_006904.6:c.3464+326A>C , LRG_162t1:c.3464+326A>C | NP_008835.5:n.3464+326A>C | |
| XM_011517567.1:c.3464+326A>C | XP_011515869.1:n.3464+326A>C | |
| XM_011517568.1:c.3464+326A>C | XP_011515870.1:n.3464+326A>C | |
| NM_001081640.2:c.3464+326A>C | NP_001075109.1:n.3464+326A>C | |
| NM_006904.7:c.3464+326A>C MANE Select | NP_008835.5:n.3464+326A>C |