Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137192183G= , CM000671.2:g.137192183G= | GRCh38 |
| NC_000009.11:g.140086635G= , CM000671.1:g.140086635G= | GRCh37 |
| NC_000009.10:g.139206456G= | NCBI36 |
| NG_027801.1:g.13529C= | |
| NG_027801.2:g.17011C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409012.6:c.2074-9C= MANE Select | ENSP00000387100.4:n.2074-9C= | |
| ENST00000333046.8:c.1543C= | ENSP00000327617.4:p.His515= | |
| ENST00000409012.4:c.2074-9C= | ENSP00000387100.4:n.2074-9C= | |
| ENST00000477345.1:n.2795-9C= | ||
| NM_001128228.2:c.2074-9C= | NP_001121700.2:n.2074-9C= | |
| NM_001128228.3:c.2074-9C= MANE Select | NP_001121700.2:n.2074-9C= |