Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.128297477C= , CM000674.2:g.128297477C= | GRCh38 |
| NC_000012.11:g.128782022C= , CM000674.1:g.128782022C= | GRCh37 |
| NC_000012.10:g.127347975C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001136103.3:c.85+29990C= MANE Select | NP_001129575.2:n.85+29990C= |
| ENST00000435159.3:c.85+29990C= MANE Select | ENSP00000410852.2:n.85+29990C= |
| NM_001136103.2:c.85+29990C= | NP_001129575.2:n.85+29990C= |
| NM_001387058.1:c.25+29183C= | NP_001373987.1:n.25+29183C= |
| ENST00000435159.2:c.85+29990C= | ENSP00000410852.2:n.85+29990C= |
| XM_011538998.1:c.25+29183C= | XP_011537300.1:n.25+29183C= |
| XM_011538998.2:c.25+29183C= | XP_011537300.1:n.25+29183C= |
| XR_001748922.1:n.318+29990C= |