Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.47572792C= , CM000685.2:g.47572792C= | GRCh38 |
| NC_000023.10:g.47432191C= , CM000685.1:g.47432191C= | GRCh37 |
| NC_000023.9:g.47317135C= | NCBI36 |
| NG_008437.1:g.52066G= | |
| NG_016339.1:g.16676C= | |
| NG_016339.2:g.16676C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295987.13:c.*72G= MANE Select | ENSP00000295987.7:n.*72G= | |
| ENST00000340666.5:c.*142G= | ENSP00000343206.4:n.*142G= | |
| ENST00000640721.1:c.240G= | ENSP00000492857.1:n.240G= | |
| ENST00000295987.11:c.*72G= | ENSP00000295987.7:n.*72G= | |
| ENST00000340666.4:c.*142G= | ENSP00000343206.4:n.*142G= | |
| NM_006950.3:c.*72G= MANE Select | NP_008881.2:n.*72G= | |
| NM_133499.2:c.*142G= | NP_598006.1:n.*142G= |