gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.45288525G>T , CM000684.2:g.45288525G>T | GRCh38 |
| NC_000022.10:g.45684406G>T , CM000684.1:g.45684406G>T | GRCh37 |
| NC_000022.9:g.44063070G>T | NCBI36 |
| NG_016203.1:g.8539G>T | |
| NG_016203.2:g.8539G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216211.9:c.489-536G>T MANE Select | ENSP00000216211.4:n.489-536G>T | |
| ENST00000216211.8:c.489-536G>T | ENSP00000216211.4:n.489-536G>T | |
| ENST00000396082.2:c.208+2429G>T | ENSP00000379391.2:n.208+2429G>T | |
| NM_001167574.1:c.208+2429G>T | NP_001161046.1:n.208+2429G>T | |
| NM_006953.3:c.489-536G>T | NP_008884.1:n.489-536G>T | |
| XM_011530364.1:c.495-536G>T | XP_011528666.1:n.495-536G>T | |
| XM_011530365.1:c.214+2429G>T | XP_011528667.1:n.214+2429G>T | |
| NM_006953.4:c.489-536G>T MANE Select | NP_008884.1:n.489-536G>T | |
| NM_001167574.2:c.208+2429G>T | NP_001161046.1:n.208+2429G>T |