gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115732900C>A , CM000663.2:g.115732900C>A | GRCh38 |
| NC_000001.10:g.116275521C>A , CM000663.1:g.116275521C>A | GRCh37 |
| NC_000001.9:g.116077044C>A | NCBI36 |
| NG_008802.1:g.40906G>T , LRG_404:g.40906G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000488931.2:c.330+1G>T | ENSP00000518226.1:n.330+1G>T | |
| ENST00000261448.6:c.606+1G>T MANE Select | ENSP00000261448.5:n.606+1G>T | |
| ENST00000261448.5:c.606+1G>T | ENSP00000261448.5:n.606+1G>T | |
| ENST00000488931.1:n.27+1G>T | ||
| NM_001232.3:c.606+1G>T , LRG_404t1:c.606+1G>T | NP_001223.2:n.606+1G>T | |
| NM_001232.4:c.606+1G>T MANE Select | NP_001223.2:n.606+1G>T |