Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.113224129T= , CM000671.2:g.113224129T= | GRCh38 |
| NC_000009.11:g.115986409T= , CM000671.1:g.115986409T= | GRCh37 |
| NC_000009.10:g.115026230T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001859.4:c.-36+2451T= MANE Select | NP_001850.1:n.-36+2451T= |
| ENST00000374212.5:c.-36+2451T= MANE Select | ENSP00000363329.4:n.-36+2451T= |
| NM_001859.3:c.-36+2451T= | NP_001850.1:n.-36+2451T= |
| ENST00000374212.4:c.-36+2451T= | ENSP00000363329.4:n.-36+2451T= |
| ENST00000496650.1:n.92+2451T= | |
| XR_002956933.1:n.167-804A= |