Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110589912A= , CM000672.2:g.110589912A= | GRCh38 |
| NC_000010.10:g.112349670A= , CM000672.1:g.112349670A= | GRCh37 |
| NC_000010.9:g.112339660A= | NCBI36 |
| NG_012217.1:g.27222A= , LRG_774:g.27222A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684797.1:n.1330A= | ||
| ENST00000684988.1:n.2075A= | ||
| ENST00000687823.1:n.1344A= | ||
| ENST00000689932.1:n.3493A= | ||
| ENST00000691297.1:n.1563A= | ||
| ENST00000691527.1:n.2233A= | ||
| ENST00000692792.1:n.1549A= | ||
| ENST00000361804.5:c.1430A= MANE Select | ENSP00000354720.5:p.Asn477= | |
| ENST00000361804.4:c.1430A= | ENSP00000354720.4:p.Asn477= | |
| NM_005445.3:c.1430A= , LRG_774t1:c.1430A= | NP_005436.1:p.Asn477= | |
| NM_005445.4:c.1430A= MANE Select | NP_005436.1:p.Asn477= |