Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197039142G= , CM000663.2:g.197039142G= | GRCh38 |
| NC_000001.10:g.197008272G= , CM000663.1:g.197008272G= | GRCh37 |
| NC_000001.9:g.195274895G= | NCBI36 |
| NG_012065.1:g.33126C= , LRG_550:g.33126C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367412.2:c.*236C= MANE Select | ENSP00000356382.2:n.*236C= | |
| ENST00000649282.1:c.977C= | ENSP00000497116.1:n.977C= | |
| XM_011509283.2:c.*1157C= | XP_011507585.1:n.*1157C= | |
| XM_011509284.2:c.*1157C= | XP_011507586.1:n.*1157C= | |
| XM_011509286.2:c.*1157C= | XP_011507588.1:n.*1157C= | |
| NM_001994.3:c.*236C= MANE Select | NP_001985.2:n.*236C= |