Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.21855846A= , CM000684.2:g.21855846A= | GRCh38 |
| NC_000022.10:g.22210135A= , CM000684.1:g.22210135A= | GRCh37 |
| NC_000022.9:g.20540135A= | NCBI36 |
| NG_023054.2:g.16835T= , LRG_786:g.16835T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002745.5:c.119+11476T= MANE Select | NP_002736.3:n.119+11476T= |
| ENST00000215832.11:c.119+11476T= MANE Select | ENSP00000215832.7:n.119+11476T= |
| NM_002745.4:c.119+11476T= , LRG_786t1:c.119+11476T= | NP_002736.3:n.119+11476T= |
| NM_138957.3:c.119+11476T= , LRG_786t2:c.119+11476T= | NP_620407.1:n.119+11476T= |
| ENST00000215832.10:c.119+11476T= | ENSP00000215832.6:n.119+11476T= |
| ENST00000398822.7:c.119+11476T= | ENSP00000381803.3:n.119+11476T= |
| ENST00000544786.1:c.119+11476T= | ENSP00000440842.1:n.119+11476T= |