Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.29831026C= , CM000668.2:g.29831026C= | GRCh38 |
| NC_000006.11:g.29798803C= , CM000668.1:g.29798803C= | GRCh37 |
| NC_000006.10:g.29906782C= | NCBI36 |
| NG_029039.1:g.9048C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360323.10:c.*287C= | ENSP00000353472.6:n.*287C= | |
| ENST00000376815.3:c.752C= | ENSP00000366011.3:n.752C= | |
| ENST00000376818.7:c.1028C= | ENSP00000366014.3:n.1028C= | |
| ENST00000376828.6:c.*287C= | ENSP00000366024.2:n.*287C= | |
| ENST00000428701.5:c.*287C= | ENSP00000412927.1:n.*287C= | |
| ENST00000478355.5:n.1426C= | ||
| ENST00000478519.5:c.1076C= | ENSP00000436375.1:n.1076C= | |
| NM_002127.5:c.*287C= | NP_002118.1:n.*287C= | |
| NM_001363567.1:c.*287C= | NP_001350496.1:n.*287C= | |
| XM_017010817.1:c.*287C= | XP_016866306.1:n.*287C= |