gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.61174951 (AFR)
Genomes Max Group AF
0.61174951 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.74860740T>C , CM000676.2:g.74860740T>C | GRCh38 |
| NC_000014.8:g.75327443T>C , CM000676.1:g.75327443T>C | GRCh37 |
| NC_000014.7:g.74397196T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556489.4:c.1305+1790A>G MANE Select | ENSP00000451223.2:n.1305+1790A>G | |
| ENST00000673765.1:c.732+2363A>G | ENSP00000501015.1:n.732+2363A>G | |
| ENST00000556084.6:c.732+2363A>G | ENSP00000451463.2:n.732+2363A>G | |
| ENST00000556489.3:c.1305+1790A>G | ENSP00000451223.2:n.1305+1790A>G | |
| NM_001080408.2:c.732+2363A>G | NP_001073877.2:n.732+2363A>G | |
| NM_001243007.1:c.1305+1790A>G | NP_001229936.1:n.1305+1790A>G | |
| XM_005267543.2:c.1311+471A>G | XP_005267600.1:n.1311+471A>G | |
| XM_005267543.4:c.1311+471A>G | XP_005267600.1:n.1311+471A>G | |
| XM_017021222.1:c.*1769A>G | XP_016876711.1:n.*1769A>G | |
| NM_001080408.3:c.732+2363A>G | NP_001073877.2:n.732+2363A>G | |
| NM_001243007.2:c.1305+1790A>G MANE Select | NP_001229936.1:n.1305+1790A>G | |
| NM_001384314.1:c.1305+1790A>G | NP_001371243.1:n.1305+1790A>G | |
| NR_169190.1:n.1807+1790A>G |