Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.110434983T>A , CM000671.2:g.110434983T>A | GRCh38 |
| NC_000009.11:g.113197263T>A , CM000671.1:g.113197263T>A | GRCh37 |
| NC_000009.10:g.112237084T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374469.6:c.4888+258A>T MANE Select | ENSP00000363593.2:n.4888+258A>T | |
| ENST00000374469.5:c.4888+258A>T | ENSP00000363593.2:n.4888+258A>T | |
| ENST00000401783.6:c.4897+258A>T | ENSP00000384917.3:n.4897+258A>T | |
| NM_153366.3:c.4888+258A>T | NP_699197.3:n.4888+258A>T | |
| NM_153366.4:c.4888+258A>T MANE Select | NP_699197.3:n.4888+258A>T |