Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.21742041C>T , CM000680.2:g.21742041C>T | GRCh38 |
| NC_000018.9:g.19322002C>T , CM000680.1:g.19322002C>T | GRCh37 |
| NC_000018.8:g.17576000C>T | NCBI36 |
| NG_033272.2:g.42085C>T , LRG_759:g.42085C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261537.7:c.229+229C>T MANE Select | ENSP00000261537.6:n.229+229C>T | |
| ENST00000261537.6:c.229+229C>T | ENSP00000261537.6:n.229+229C>T | |
| ENST00000578646.5:n.168-23731C>T | ||
| NM_020774.3:c.229+229C>T , LRG_759t1:c.229+229C>T | NP_065825.1:n.229+229C>T | |
| XR_935234.1:n.1020+229C>T | ||
| XR_935235.1:n.1020+229C>T | ||
| XM_017025874.1:c.229+229C>T | XP_016881363.1:n.229+229C>T | |
| XM_017025875.1:c.229+229C>T | XP_016881364.1:n.229+229C>T | |
| NM_020774.4:c.229+229C>T MANE Select | NP_065825.1:n.229+229C>T |