Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.110920526C= , CM000674.2:g.110920526C= | GRCh38 |
| NC_000012.11:g.111358330C= , CM000674.1:g.111358330C= | GRCh37 |
| NC_000012.10:g.109842713C= | NCBI36 |
| NG_007554.1:g.5052G= , LRG_393:g.5052G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000432.4:c.3+1G= MANE Select | NP_000423.2:n.3+1G= |
| ENST00000228841.15:c.3+1G= MANE Select | ENSP00000228841.8:n.3+1G= |
| NM_000432.3:c.3+1G= , LRG_393t1:c.3+1G= | NP_000423.2:n.3+1G= |
| ENST00000228841.12:c.3+1G= | ENSP00000228841.7:n.3+1G= |
| ENST00000546404.1:n.196+1G= | |
| ENST00000548438.1:c.3+1G= | ENSP00000447154.1:n.3+1G= |
| ENST00000663220.1:c.-55+863G= | ENSP00000499568.1:n.-55+863G= |