gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.155461298G>T , CM000669.2:g.155461298G>T | GRCh38 |
| NC_000007.13:g.155253993G>T , CM000669.1:g.155253993G>T | GRCh37 |
| NC_000007.12:g.154946754G>T | NCBI36 |
| NG_007124.1:g.9579G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297375.4:c.686-1073G>T MANE Select | ENSP00000297375.4:n.686-1073G>T | |
| NM_001427.3:c.686-1073G>T | NP_001418.2:n.686-1073G>T | |
| NM_001427.4:c.686-1073G>T MANE Select | NP_001418.2:n.686-1073G>T |