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