Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110436109A>T , CM000675.2:g.110436109A>T | GRCh38 |
| NC_000013.10:g.111088456A>T , CM000675.1:g.111088456A>T | GRCh37 |
| NC_000013.9:g.109886457A>T | NCBI36 |
| NG_032137.1:g.133826A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001846.4:c.727-160A>T MANE Select | NP_001837.2:n.727-160A>T |
| ENST00000360467.7:c.727-160A>T MANE Select | ENSP00000353654.5:n.727-160A>T |
| NM_001846.2:c.727-160A>T | NP_001837.2:n.727-160A>T |
| NM_001846.3:c.727-160A>T | NP_001837.2:n.727-160A>T |
| ENST00000360467.5:c.727-160A>T | ENSP00000353654.5:n.727-160A>T |
| ENST00000650540.1:c.727-160A>T | ENSP00000497878.1:n.727-160A>T |