gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.32404750T>A , CM000669.2:g.32404750T>A | GRCh38 |
| NC_000007.13:g.32444362T>A , CM000669.1:g.32444362T>A | GRCh37 |
| NC_000007.12:g.32410887T>A | NCBI36 |
| NG_051183.1:g.28475A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000672256.1:c.310+23072A>T | ENSP00000499831.1:n.310+23072A>T | |
| NM_001322059.1:c.310+23072A>T | NP_001308988.1:n.310+23072A>T | |
| NM_001322059.2:c.310+23072A>T | NP_001308988.1:n.310+23072A>T |