Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110601953T>G , CM000672.2:g.110601953T>G | GRCh38 |
| NC_000010.10:g.112361711T>G , CM000672.1:g.112361711T>G | GRCh37 |
| NC_000010.9:g.112351701T>G | NCBI36 |
| NG_012217.1:g.39263T>G , LRG_774:g.39263T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005445.4:c.2893-13T>G MANE Select | NP_005436.1:n.2893-13T>G |
| ENST00000361804.5:c.2893-13T>G MANE Select | ENSP00000354720.5:n.2893-13T>G |
| NM_005445.3:c.2893-13T>G , LRG_774t1:c.2893-13T>G | NP_005436.1:n.2893-13T>G |
| ENST00000361804.4:c.2893-13T>G | ENSP00000354720.4:n.2893-13T>G |
| ENST00000684988.1:n.5126-13T>G | |
| ENST00000685743.1:n.2601-13T>G | |
| ENST00000686057.1:n.1244-13T>G | |
| ENST00000689321.1:n.1856-13T>G | |
| ENST00000689986.1:n.682-13T>G |