Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15879562G= , CM000681.2:g.15879562G= | GRCh38 |
| NC_000019.9:g.15990372G= , CM000681.1:g.15990372G= | GRCh37 |
| NC_000019.8:g.15851372G= | NCBI36 |
| NG_007971.2:g.23513C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221700.11:c.1314+42C= MANE Select | ENSP00000221700.3:n.1314+42C= | |
| ENST00000011989.11:c.1314+42C= | ENSP00000011989.8:n.1314+42C= | |
| ENST00000221700.10:c.1314+42C= | ENSP00000221700.3:n.1314+42C= | |
| ENST00000392846.7:n.1257+42C= | ||
| ENST00000589654.2:c.103-134C= | ||
| NM_001082.4:c.1314+42C= | NP_001073.3:n.1314+42C= | |
| NM_001082.5:c.1314+42C= MANE Select | NP_001073.3:n.1314+42C= |