Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137194178G= , CM000671.2:g.137194178G= | GRCh38 |
| NC_000009.11:g.140088630G= , CM000671.1:g.140088630G= | GRCh37 |
| NC_000009.10:g.139208451G= | NCBI36 |
| NG_027801.1:g.11534C= | |
| NG_027801.2:g.15016C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409012.6:c.1726-1487C= MANE Select | ENSP00000387100.4:n.1726-1487C= | |
| ENST00000333046.8:c.1120-1487C= | ENSP00000327617.4:n.1120-1487C= | |
| ENST00000409012.4:c.1726-1487C= | ENSP00000387100.4:n.1726-1487C= | |
| ENST00000477345.1:n.960C= | ||
| ENST00000541945.1:n.91-1487C= | ||
| NM_001128228.2:c.1726-1487C= | NP_001121700.2:n.1726-1487C= | |
| NM_001128228.3:c.1726-1487C= MANE Select | NP_001121700.2:n.1726-1487C= |