gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.62083672 (EAS)
Genomes Max Group AF
0.62083672 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.27348523G>A , CM000678.2:g.27348523G>A | GRCh38 |
| NC_000016.9:g.27359844G>A , CM000678.1:g.27359844G>A | GRCh37 |
| NC_000016.8:g.27267345G>A | NCBI36 |
| NG_012086.1:g.39594G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395762.7:c.513+1905G>A MANE Select | ENSP00000379111.2:n.513+1905G>A | |
| ENST00000170630.6:c.468+1905G>A | ENSP00000170630.3:n.468+1905G>A | |
| ENST00000395762.6:c.513+1905G>A | ENSP00000379111.2:n.513+1905G>A | |
| ENST00000543915.6:c.513+1905G>A | ENSP00000441667.2:n.513+1905G>A | |
| ENST00000566318.5:c.361+3503G>A | ENSP00000456248.1:n.361+3503G>A | |
| ENST00000568746.5:c.*556+1905G>A | ENSP00000455714.1:n.*556+1905G>A | |
| NM_000418.3:c.513+1905G>A | NP_000409.1:n.513+1905G>A | |
| NM_001257406.1:c.513+1905G>A | NP_001244335.1:n.513+1905G>A | |
| NM_001257407.1:c.468+1905G>A | NP_001244336.1:n.468+1905G>A | |
| NM_001257997.1:c.38+1905G>A | NP_001244926.1:n.38+1905G>A | |
| XM_011545825.1:c.513+1905G>A | XP_011544127.1:n.513+1905G>A | |
| XM_011545826.1:c.513+1905G>A | XP_011544128.1:n.513+1905G>A | |
| XM_011545827.1:c.513+1905G>A | XP_011544129.1:n.513+1905G>A | |
| XM_011545828.1:c.246+1905G>A | XP_011544130.1:n.246+1905G>A | |
| XM_011545829.1:c.216+3503G>A | XP_011544131.1:n.216+3503G>A | |
| XM_011545830.1:c.216+3503G>A | XP_011544132.1:n.216+3503G>A | |
| XM_011545831.1:c.216+3503G>A | XP_011544133.1:n.216+3503G>A | |
| XM_011545832.1:c.216+3503G>A | XP_011544134.1:n.216+3503G>A | |
| XM_011545833.1:c.216+3503G>A | XP_011544135.1:n.216+3503G>A | |
| XM_011545834.1:c.90+3503G>A | XP_011544136.1:n.90+3503G>A | |
| XM_011545826.2:c.513+1905G>A | XP_011544128.1:n.513+1905G>A | |
| XM_011545827.2:c.513+1905G>A | XP_011544129.1:n.513+1905G>A | |
| XM_011545828.2:c.246+1905G>A | XP_011544130.1:n.246+1905G>A | |
| XM_011545830.2:c.216+3503G>A | XP_011544132.1:n.216+3503G>A | |
| XM_011545833.2:c.216+3503G>A | XP_011544135.1:n.216+3503G>A | |
| XM_011545834.2:c.90+3503G>A | XP_011544136.1:n.90+3503G>A | |
| XM_017023211.1:c.513+1905G>A | XP_016878700.1:n.513+1905G>A | |
| NM_000418.4:c.513+1905G>A MANE Select | NP_000409.1:n.513+1905G>A | |
| NM_001257406.2:c.513+1905G>A | NP_001244335.1:n.513+1905G>A | |
| NM_001257407.2:c.468+1905G>A | NP_001244336.1:n.468+1905G>A | |
| NM_001257997.2:c.38+1905G>A | NP_001244926.1:n.38+1905G>A |