gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.75647618C>A , CM000678.2:g.75647618C>A | GRCh38 |
| NC_000016.9:g.75681516C>A , CM000678.1:g.75681516C>A | GRCh37 |
| NC_000016.8:g.74239017C>A | NCBI36 |
| NG_028025.1:g.5070G>T , LRG_366:g.5070G>T | |
| NG_051307.2:g.4915C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302445.8:c.22G>T MANE Select | ENSP00000303043.3:p.Glu8Ter | |
| ENST00000302445.7:c.22G>T | ENSP00000303043.3:p.Glu8Ter | |
| ENST00000319410.9:c.-75G>T | ENSP00000325448.5:n.-75G>T | |
| ENST00000562875.5:c.22G>T | ENSP00000456185.1:p.Glu8Ter | |
| ENST00000564578.5:c.-75G>T | ENSP00000455818.1:n.-75G>T | |
| ENST00000566560.5:n.176+850G>T | ||
| ENST00000568378.5:c.-75G>T | ENSP00000454512.1:n.-75G>T | |
| ENST00000568682.5:c.-530G>T | ENSP00000462057.1:n.-530G>T | |
| ENST00000570215.1:c.-189G>T | ENSP00000458028.1:n.-189G>T | |
| NM_001130089.1:c.-75G>T , LRG_366t1:c.-75G>T | NP_001123561.1:n.-75G>T | |
| NM_005548.2:c.22G>T | NP_005539.1:p.Glu8Ter | |
| XM_017023217.1:c.-561G>T | XP_016878706.1:n.-561G>T | |
| NM_001130089.2:c.-75G>T | NP_001123561.1:n.-75G>T | |
| NM_001378148.1:c.-561G>T | NP_001365077.1:n.-561G>T | |
| NM_005548.3:c.22G>T MANE Select | NP_005539.1:p.Glu8Ter |