Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1106788A= , CM000681.2:g.1106788A= | GRCh38 |
| NC_000019.9:g.1106787A= , CM000681.1:g.1106787A= | GRCh37 |
| NC_000019.8:g.1057787A= | NCBI36 |
| NG_050621.1:g.7863A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354171.12:c.*216A= | ENSP00000346103.7:n.*216A= | |
| ENST00000588919.5:c.*22A= | ENSP00000464989.3:n.*22A= | |
| ENST00000592940.2:n.1181A= | ||
| NM_001039847.2:c.*148A= | NP_001034936.1:n.*148A= | |
| NM_001039848.2:c.*216A= | NP_001034937.1:n.*216A= | |
| NM_002085.4:c.*216A= | NP_002076.2:n.*216A= | |
| NM_001039848.3:c.*216A= | NP_001034937.1:n.*216A= |