Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110581113A= , CM000672.2:g.110581113A= | GRCh38 |
| NC_000010.10:g.112340871A= , CM000672.1:g.112340871A= | GRCh37 |
| NC_000010.9:g.112330861A= | NCBI36 |
| NG_012217.1:g.18423A= , LRG_774:g.18423A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005445.4:c.547+92A= MANE Select | NP_005436.1:n.547+92A= |
| ENST00000361804.5:c.547+92A= MANE Select | ENSP00000354720.5:n.547+92A= |
| NM_005445.3:c.547+92A= , LRG_774t1:c.547+92A= | NP_005436.1:n.547+92A= |
| ENST00000361804.4:c.547+92A= | ENSP00000354720.4:n.547+92A= |
| ENST00000462899.1:n.693+92A= | |
| ENST00000684988.1:n.680+92A= | |
| ENST00000687823.1:n.461+92A= | |
| ENST00000689932.1:n.2610+92A= | |
| ENST00000691297.1:n.680+92A= | |
| ENST00000691527.1:n.1350+92A= | |
| ENST00000692792.1:n.666+92A= |