gnomAD v2:
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24255363C>A , CM000676.2:g.24255363C>A | GRCh38 |
| NC_000014.8:g.24724569C>A , CM000676.1:g.24724569C>A | GRCh37 |
| NC_000014.7:g.23794409C>A | NCBI36 |
| NG_007150.1:g.12804G>T | |
| NG_007150.2:g.12804G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000206765.11:c.1645+1G>T MANE Select | ENSP00000206765.6:n.1645+1G>T | |
| ENST00000206765.10:c.1645+1G>T | ENSP00000206765.6:n.1645+1G>T | |
| ENST00000544573.5:c.319+1G>T | ENSP00000439446.1:n.319+1G>T | |
| NM_000359.2:c.1645+1G>T | NP_000350.1:n.1645+1G>T | |
| NM_000359.3:c.1645+1G>T MANE Select | NP_000350.1:n.1645+1G>T |