gnomAD v2:
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.97721509C>A , CM000663.2:g.97721509C>A | GRCh38 |
| NC_000001.10:g.98187065C>A , CM000663.1:g.98187065C>A | GRCh37 |
| NC_000001.9:g.97959653C>A | NCBI36 |
| NG_008807.2:g.204551G>T , LRG_722:g.204551G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370192.8:c.483+1G>T MANE Select | ENSP00000359211.3:n.483+1G>T | |
| ENST00000306031.5:c.483+1G>T | ENSP00000307107.5:n.483+1G>T | |
| ENST00000370192.7:c.483+1G>T | ENSP00000359211.3:n.483+1G>T | |
| ENST00000474241.1:n.145+1G>T | ||
| NM_000110.3:c.483+1G>T , LRG_722t1:c.483+1G>T | NP_000101.2:n.483+1G>T | |
| NM_001160301.1:c.483+1G>T , LRG_722t2:c.483+1G>T | NP_001153773.1:n.483+1G>T | |
| XM_005270562.3:c.483+1G>T | XP_005270619.2:n.483+1G>T | |
| XM_006710397.2:c.483+1G>T | XP_006710460.1:n.483+1G>T | |
| XM_006710397.3:c.483+1G>T | XP_006710460.1:n.483+1G>T | |
| XM_017000507.1:c.372+1G>T | XP_016855996.1:n.372+1G>T | |
| XM_017000508.2:c.-228+1G>T | XP_016855997.1:n.-228+1G>T | |
| XM_017000509.2:c.-126+1G>T | XP_016855998.1:n.-126+1G>T | |
| XM_017000510.1:c.-126+1G>T | XP_016855999.1:n.-126+1G>T | |
| XR_001737014.1:n.620+1G>T | ||
| NM_000110.4:c.483+1G>T MANE Select | NP_000101.2:n.483+1G>T |