Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47284738A= , CM000679.2:g.47284738A= | GRCh38 |
| NC_000017.10:g.45362104A= , CM000679.1:g.45362104A= | GRCh37 |
| NC_000017.9:g.42717103A= | NCBI36 |
| NG_008332.2:g.35897A= , LRG_481:g.35897A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696963.1:c.614+43A= | ENSP00000513002.1:n.614+43A= | |
| ENST00000559488.7:c.614+43A= MANE Select | ENSP00000452786.2:n.614+43A= | |
| ENST00000559488.5:c.614+43A= | ENSP00000452786.1:n.614+43A= | |
| ENST00000560629.1:c.579+43A= | ||
| ENST00000571680.1:c.614+43A= | ENSP00000461626.1:n.614+43A= | |
| NM_000212.2:c.614+43A= , LRG_481t1:c.614+43A= | NP_000203.2:n.614+43A= | |
| NM_000212.3:c.614+43A= MANE Select | NP_000203.2:n.614+43A= |