gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.78360015T>A , CM000679.2:g.78360015T>A | GRCh38 |
| NC_000017.10:g.76356096T>A , CM000679.1:g.76356096T>A | GRCh37 |
| NC_000017.9:g.73867691T>A | NCBI36 |
| NG_016851.1:g.5063A>T , LRG_619:g.5063A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330871.3:c.-354A>T MANE Select | ENSP00000330341.2:n.-354A>T | |
| ENST00000587578.1:c.-255A>T | ENSP00000464727.1:n.-255A>T | |
| NM_003955.4:c.-354A>T , LRG_619t1:c.-354A>T | NP_003946.3:n.-354A>T | |
| NM_001378933.1:c.-88-832A>T | NP_001365862.1:n.-88-832A>T | |
| NM_003955.5:c.-354A>T MANE Select | NP_003946.3:n.-354A>T |