Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55040067C= , CM000663.2:g.55040067C= | GRCh38 |
| NC_000001.10:g.55505740C= , CM000663.1:g.55505740C= | GRCh37 |
| NC_000001.9:g.55278328C= | NCBI36 |
| NG_009061.1:g.5521C= , LRG_275:g.5521C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.207+23C= | ENSP00000501161.2:n.207+23C= | |
| ENST00000710286.1:c.564+23C= | ENSP00000518176.1:n.564+23C= | |
| ENST00000673726.1:c.207+23C= | ENSP00000501004.1:n.207+23C= | |
| ENST00000302118.5:c.207+23C= MANE Select | ENSP00000303208.5:n.207+23C= | |
| NM_174936.3:c.207+23C= , LRG_275t1:c.207+23C= | NP_777596.2:n.207+23C= | |
| NM_174936.4:c.207+23C= MANE Select | NP_777596.2:n.207+23C= |