Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186227233C= , CM000666.2:g.186227233C= | GRCh38 |
| NC_000004.11:g.187148387C= , CM000666.1:g.187148387C= | GRCh37 |
| NC_000004.10:g.187385381C= | NCBI36 |
| NG_012095.2:g.23255C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000428196.5:c.-149-207C= | ENSP00000412366.1:n.-149-207C= |
| ENST00000511608.5:c.202-4894C= | |
| XM_011531931.1:c.-1-962C= | XP_011530233.1:n.-1-962C= |
| XM_011531932.1:c.-251-169C= | XP_011530234.1:n.-251-169C= |
| XM_011531933.1:c.-65-1012C= | XP_011530235.1:n.-65-1012C= |
| XM_017008181.1:c.-1-962C= | XP_016863670.1:n.-1-962C= |