Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52810830C>T , CM000674.2:g.52810830C>T | GRCh38 |
| NC_000012.11:g.53204614C>T , CM000674.1:g.53204614C>T | GRCh37 |
| NC_000012.10:g.51490881C>T | NCBI36 |
| NG_007380.1:g.8722G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000551956.2:c.678-14G>A MANE Select | ENSP00000448220.1:n.678-14G>A | |
| ENST00000548097.5:c.*190-14G>A | ENSP00000449755.1:n.*190-14G>A | |
| ENST00000549295.1:n.98G>A | ||
| ENST00000551956.1:c.678-14G>A | ENSP00000448220.1:n.678-14G>A | |
| ENST00000552668.1:c.*83-14G>A | ENSP00000447320.1:n.*83-14G>A | |
| NM_002272.3:c.678-14G>A | NP_002263.3:n.678-14G>A | |
| NM_002272.4:c.678-14G>A MANE Select | NP_002263.3:n.678-14G>A |