gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.57086918 (AFR)
Genomes Max Group AF
0.57086918 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.95905518T>C , CM000667.2:g.95905518T>C | GRCh38 |
| NC_000005.9:g.95241222T>C , CM000667.1:g.95241222T>C | GRCh37 |
| NC_000005.8:g.95266978T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237853.9:c.741+1005A>G MANE Select | ENSP00000237853.4:n.741+1005A>G | |
| ENST00000237853.8:c.741+1005A>G | ENSP00000237853.4:n.741+1005A>G | |
| ENST00000513343.1:c.196-4438A>G | ENSP00000423915.1:n.196-4438A>G | |
| NM_012081.5:c.741+1005A>G | NP_036213.2:n.741+1005A>G | |
| XM_006714575.1:c.576+1005A>G | XP_006714638.1:n.576+1005A>G | |
| XM_011543280.1:c.345+1005A>G | XP_011541582.1:n.345+1005A>G | |
| XM_006714575.3:c.576+1005A>G | XP_006714638.1:n.576+1005A>G | |
| XM_017009239.1:c.741+1005A>G | XP_016864728.1:n.741+1005A>G | |
| XM_017009240.2:c.345+1005A>G | XP_016864729.1:n.345+1005A>G | |
| XM_017009241.2:c.345+1005A>G | XP_016864730.1:n.345+1005A>G | |
| XM_017009242.1:c.345+1005A>G | XP_016864731.1:n.345+1005A>G | |
| XM_017009243.2:c.186+1005A>G | XP_016864732.1:n.186+1005A>G | |
| NM_012081.6:c.741+1005A>G MANE Select | NP_036213.2:n.741+1005A>G |