Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.31659854A= , CM000683.2:g.31659854A= | GRCh38 |
| NC_000021.8:g.33032167A= , CM000683.1:g.33032167A= | GRCh37 |
| NC_000021.7:g.31954038A= | NCBI36 |
| NG_008689.1:g.5233A= , LRG_652:g.5233A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270142.11:c.72+13A= MANE Select | ENSP00000270142.7:n.72+13A= | |
| ENST00000270142.10:c.72+13A= | ENSP00000270142.6:n.72+13A= | |
| ENST00000389995.4:c.15+70A= | ENSP00000374645.4:n.15+70A= | |
| ENST00000470944.1:n.146A= | ||
| ENST00000476106.5:n.149+13A= | ||
| NM_000454.4:c.72+13A= , LRG_652t1:c.72+13A= | NP_000445.1:n.72+13A= | |
| NM_000454.5:c.72+13A= MANE Select | NP_000445.1:n.72+13A= |