Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.128701973C>T , CM000674.2:g.128701973C>T | GRCh38 |
| NC_000012.11:g.129186518C>T , CM000674.1:g.129186518C>T | GRCh37 |
| NC_000012.10:g.127752471C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435159.3:c.2122-3117C>T MANE Select | ENSP00000410852.2:n.2122-3117C>T | |
| ENST00000435159.2:c.2122-3117C>T | ENSP00000410852.2:n.2122-3117C>T | |
| NM_001136103.2:c.2122-3117C>T | NP_001129575.2:n.2122-3117C>T | |
| XM_011538998.1:c.2062-3117C>T | XP_011537300.1:n.2062-3117C>T | |
| XM_011538998.2:c.2062-3117C>T | XP_011537300.1:n.2062-3117C>T | |
| XR_001748922.1:n.2355-2679C>T | ||
| NM_001136103.3:c.2122-3117C>T MANE Select | NP_001129575.2:n.2122-3117C>T | |
| NM_001387058.1:c.2062-3117C>T | NP_001373987.1:n.2062-3117C>T |