Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6595166G= , CM000671.2:g.6595166G= | GRCh38 |
| NC_000009.11:g.6595166G= , CM000671.1:g.6595166G= | GRCh37 |
| NC_000009.10:g.6585166G= | NCBI36 |
| NG_016397.1:g.55527C= , LRG_643:g.55527C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.1156-47C= MANE Select | ENSP00000370737.4:n.1156-47C= | |
| ENST00000638654.1:c.403-47C= | ENSP00000491101.1:n.403-47C= | |
| ENST00000639364.1:n.856-47C= | ||
| ENST00000639443.1:n.724-47C= | ||
| ENST00000639493.1:n.308-47C= | ||
| ENST00000639954.1:n.864-47C= | ||
| ENST00000640592.1:n.1039-47C= | ||
| ENST00000321612.6:c.1156-47C= | ENSP00000370737.3:n.1156-47C= | |
| ENST00000463305.1:n.240-47C= | ||
| NM_000170.2:c.1156-47C= , LRG_643t1:c.1156-47C= | NP_000161.2:n.1156-47C= | |
| NM_000170.3:c.1156-47C= MANE Select | NP_000161.2:n.1156-47C= |