Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.111565047A>T , CM000663.2:g.111565047A>T | GRCh38 |
| NC_000001.10:g.112107669A>T , CM000663.1:g.112107669A>T | GRCh37 |
| NC_000001.9:g.111909192A>T | NCBI36 |
| NG_032119.1:g.3929T>A , LRG_424:g.3929T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001370216.1:c.-28+22538A>T | NP_001357145.1:n.-28+22538A>T |
| NM_001370216.2:c.-28+22538A>T | NP_001357145.1:n.-28+22538A>T |
| ENST00000356415.5:c.-28+22538A>T | ENSP00000348786.1:n.-28+22538A>T |
| XM_017001964.1:c.-28+22538A>T | XP_016857453.1:n.-28+22538A>T |