gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.97631542 (EAS)
Genomes Max Group AF
0.97631542 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.104333966G>C , CM000674.2:g.104333966G>C | GRCh38 |
| NC_000012.11:g.104727744G>C , CM000674.1:g.104727744G>C | GRCh37 |
| NC_000012.10:g.103251874G>C | NCBI36 |
| NG_029392.1:g.123186G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526950.2:c.1546-271G>C | ENSP00000432812.2:n.1546-271G>C | |
| ENST00000525566.6:c.1651-271G>C MANE Select | ENSP00000434516.1:n.1651-271G>C | |
| ENST00000354940.10:c.1201-271G>C | ENSP00000347020.7:n.1201-271G>C | |
| ENST00000388854.7:c.1351-271G>C | ENSP00000373506.4:n.1351-271G>C | |
| ENST00000397736.6:c.1087-271G>C | ENSP00000380844.3:n.1087-271G>C | |
| ENST00000429002.6:c.1651-271G>C | ENSP00000412045.4:n.1651-271G>C | |
| ENST00000503506.6:c.1201-271G>C | ENSP00000421934.2:n.1201-271G>C | |
| ENST00000524698.5:c.1201-271G>C | ENSP00000433425.1:n.1201-271G>C | |
| ENST00000525566.5:c.1651-271G>C | ENSP00000434516.1:n.1651-271G>C | |
| ENST00000526390.5:c.1333-271G>C | ENSP00000435123.1:n.1333-271G>C | |
| ENST00000526691.5:c.1357-271G>C | ENSP00000435929.1:n.1357-271G>C | |
| ENST00000526950.1:c.1408-271G>C | ENSP00000432812.1:n.1408-271G>C | |
| ENST00000527688.5:c.1201-271G>C | ENSP00000433935.1:n.1201-271G>C | |
| ENST00000529546.5:c.1087-271G>C | ENSP00000434919.1:n.1087-271G>C | |
| NM_001093771.2:c.1651-271G>C | NP_001087240.1:n.1651-271G>C | |
| NM_001261445.1:c.1351-271G>C | NP_001248374.1:n.1351-271G>C | |
| NM_001261446.1:c.1087-271G>C | NP_001248375.1:n.1087-271G>C | |
| NM_003330.3:c.1357-271G>C | NP_003321.3:n.1357-271G>C | |
| NM_182729.2:c.1201-271G>C | NP_877393.1:n.1201-271G>C | |
| NM_182742.2:c.1201-271G>C | NP_877419.1:n.1201-271G>C | |
| NM_182743.2:c.1201-271G>C | NP_877420.1:n.1201-271G>C | |
| NM_001093771.3:c.1651-271G>C MANE Select | NP_001087240.1:n.1651-271G>C | |
| NM_001261445.2:c.1351-271G>C | NP_001248374.1:n.1351-271G>C | |
| NM_001261446.2:c.1087-271G>C | NP_001248375.1:n.1087-271G>C | |
| NM_003330.4:c.1357-271G>C | NP_003321.3:n.1357-271G>C | |
| NM_182729.3:c.1201-271G>C | NP_877393.1:n.1201-271G>C | |
| NM_182742.3:c.1201-271G>C | NP_877419.1:n.1201-271G>C | |
| NM_182743.3:c.1201-271G>C | NP_877420.1:n.1201-271G>C |