Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.47572785G= , CM000685.2:g.47572785G= | GRCh38 |
| NC_000023.10:g.47432184G= , CM000685.1:g.47432184G= | GRCh37 |
| NC_000023.9:g.47317128G= | NCBI36 |
| NG_008437.1:g.52073C= | |
| NG_016339.1:g.16669G= | |
| NG_016339.2:g.16669G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295987.13:c.*79C= MANE Select | ENSP00000295987.7:n.*79C= | |
| ENST00000340666.5:c.*149C= | ENSP00000343206.4:n.*149C= | |
| ENST00000640721.1:c.247C= | ENSP00000492857.1:n.247C= | |
| ENST00000295987.11:c.*79C= | ENSP00000295987.7:n.*79C= | |
| ENST00000340666.4:c.*149C= | ENSP00000343206.4:n.*149C= | |
| NM_006950.3:c.*79C= MANE Select | NP_008881.2:n.*79C= | |
| NM_133499.2:c.*149C= | NP_598006.1:n.*149C= |