Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.111564958T>C , CM000663.2:g.111564958T>C | GRCh38 |
| NC_000001.10:g.112107580T>C , CM000663.1:g.112107580T>C | GRCh37 |
| NC_000001.9:g.111909103T>C | NCBI36 |
| NG_032119.1:g.4018A>G , LRG_424:g.4018A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356415.5:c.-28+22449T>C | ENSP00000348786.1:n.-28+22449T>C | |
| XM_017001964.1:c.-28+22449T>C | XP_016857453.1:n.-28+22449T>C | |
| NM_001370216.1:c.-28+22449T>C | NP_001357145.1:n.-28+22449T>C | |
| NM_001370216.2:c.-28+22449T>C | NP_001357145.1:n.-28+22449T>C |