gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.53273151 (EAS)
Genomes Max Group AF
0.53273151 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.56352794C>T , CM000679.2:g.56352794C>T | GRCh38 |
| NC_000017.10:g.54430155C>T , CM000679.1:g.54430155C>T | GRCh37 |
| NC_000017.9:g.51785154C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000635860.2:c.667-1042C>T | ENSP00000489811.2:n.667-1042C>T | |
| ENST00000682825.1:c.391-1042C>T MANE Select | ENSP00000507365.1:n.391-1042C>T | |
| ENST00000635860.1:c.667-1042C>T | ENSP00000489811.1:n.667-1042C>T | |
| ENST00000653862.1:c.841-1042C>T | ENSP00000499705.1:n.841-1042C>T | |
| ENST00000318698.6:c.400-1042C>T | ENSP00000321627.2:n.400-1042C>T | |
| ENST00000566473.6:c.400-1042C>T | ENSP00000454224.2:n.400-1042C>T | |
| ENST00000572945.1:c.460-1042C>T | ENSP00000458227.1:n.460-1042C>T | |
| NM_153228.2:c.400-1042C>T | NP_694960.2:n.400-1042C>T | |
| XM_006721728.2:c.187-1042C>T | XP_006721791.1:n.187-1042C>T | |
| XM_011524425.1:c.562-1042C>T | XP_011522727.1:n.562-1042C>T | |
| XM_011524426.1:c.532-1042C>T | XP_011522728.1:n.532-1042C>T | |
| XM_011524427.1:c.499-1042C>T | XP_011522729.1:n.499-1042C>T | |
| XM_011524428.1:c.400-1042C>T | XP_011522730.1:n.400-1042C>T | |
| XM_011524429.1:c.382-1042C>T | XP_011522731.1:n.382-1042C>T | |
| XM_011524430.1:c.187-1042C>T | XP_011522732.1:n.187-1042C>T | |
| XM_011524431.1:c.187-1042C>T | XP_011522733.1:n.187-1042C>T | |
| XM_011524432.1:c.766-1042C>T | XP_011522734.1:n.766-1042C>T | |
| NM_001365758.1:c.187-1042C>T | NP_001352687.1:n.187-1042C>T | |
| XM_006721728.3:c.187-1042C>T | XP_006721791.1:n.187-1042C>T | |
| XM_011524428.2:c.400-1042C>T | XP_011522730.1:n.400-1042C>T | |
| XM_011524429.2:c.382-1042C>T | XP_011522731.1:n.382-1042C>T | |
| XM_011524430.2:c.187-1042C>T | XP_011522732.1:n.187-1042C>T | |
| XM_011524431.2:c.187-1042C>T | XP_011522733.1:n.187-1042C>T | |
| XM_017024263.1:c.463-1042C>T | XP_016879752.1:n.463-1042C>T | |
| XM_017024264.1:c.463-1042C>T | XP_016879753.1:n.463-1042C>T | |
| XM_017024265.2:c.463-1042C>T | XP_016879754.1:n.463-1042C>T | |
| XM_017024266.1:c.433-1042C>T | XP_016879755.1:n.433-1042C>T | |
| XM_017024267.1:c.373-1042C>T | XP_016879756.1:n.373-1042C>T | |
| XM_017024269.1:c.187-1042C>T | XP_016879758.1:n.187-1042C>T | |
| XM_017024270.2:c.463-1042C>T | XP_016879759.1:n.463-1042C>T | |
| NM_001370326.1:c.391-1042C>T MANE Select | NP_001357255.1:n.391-1042C>T | |
| NM_153228.3:c.400-1042C>T | NP_694960.2:n.400-1042C>T |