Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135028462G= , CM000667.2:g.135028462G= | GRCh38 |
| NC_000005.9:g.134364152G= , CM000667.1:g.134364152G= | GRCh37 |
| NC_000005.8:g.134392051G= | NCBI36 |
| NG_012114.1:g.10813C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265340.12:c.*317C= MANE Select | ENSP00000265340.6:n.*317C= | |
| ENST00000265340.11:c.*317C= | ENSP00000265340.6:n.*317C= | |
| NM_002653.4:c.*317C= | NP_002644.4:n.*317C= | |
| NM_002653.5:c.*317C= MANE Select | NP_002644.4:n.*317C= |