gnomAD v4:
Joint Max Group AF
0.00000132 (NFE)
Exomes Max Group AF
0.00000141 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31522028G>C , CM000680.2:g.31522028G>C | GRCh38 |
| NC_000018.9:g.29101991G>C , CM000680.1:g.29101991G>C | GRCh37 |
| NC_000018.8:g.27355989G>C | NCBI36 |
| NG_007072.3:g.28787G>C , LRG_397:g.28787G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682087.2:n.355-55G>C | ||
| ENST00000682241.2:c.524-55G>C | ENSP00000507600.2:n.524-55G>C | |
| ENST00000683614.2:n.355-55G>C | ||
| ENST00000682087.1:c.355-55G>C | ||
| ENST00000682241.1:c.355-55G>C | ||
| ENST00000683614.1:c.355-55G>C | ||
| ENST00000683654.1:c.524-55G>C | ENSP00000506971.1:n.524-55G>C | |
| ENST00000684461.1:n.1139G>C | ||
| ENST00000261590.13:c.524-55G>C MANE Select | ENSP00000261590.8:n.524-55G>C | |
| ENST00000261590.12:c.524-55G>C | ENSP00000261590.8:n.524-55G>C | |
| ENST00000585206.1:c.524-55G>C | ENSP00000462503.1:n.524-55G>C | |
| NM_001943.3:c.524-55G>C , LRG_397t1:c.524-55G>C | NP_001934.2:n.524-55G>C | |
| NM_001943.4:c.524-55G>C | NP_001934.2:n.524-55G>C | |
| XM_024451095.1:c.-11-55G>C | XP_024306863.1:n.-11-55G>C | |
| NM_001943.5:c.524-55G>C MANE Select | NP_001934.2:n.524-55G>C |