Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154896066T= , CM000685.2:g.154896066T= | GRCh38 |
| NC_000023.10:g.154124341T= , CM000685.1:g.154124341T= | GRCh37 |
| NC_000023.9:g.153777535T= | NCBI36 |
| NG_011403.1:g.131658A= | |
| NG_011403.2:g.131658A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.6429+11A= MANE Select | ENSP00000353393.4:n.6429+11A= | |
| ENST00000360256.8:c.6429+11A= | ENSP00000353393.4:n.6429+11A= | |
| NM_000132.3:c.6429+11A= | NP_000123.1:n.6429+11A= | |
| XM_011531126.1:c.6324+11A= | XP_011529428.1:n.6324+11A= | |
| NM_000132.4:c.6429+11A= MANE Select | NP_000123.1:n.6429+11A= |