Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189005344A>T , CM000664.2:g.189005344A>T | GRCh38 |
| NC_000002.11:g.189870070A>T , CM000664.1:g.189870070A>T | GRCh37 |
| NC_000002.10:g.189578315A>T | NCBI36 |
| NG_007404.1:g.35972A>T , LRG_3:g.35972A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.2833-6A>T | ENSP00000415346.2:n.2833-6A>T | |
| ENST00000304636.9:c.2932-6A>T MANE Select | ENSP00000304408.4:n.2932-6A>T | |
| ENST00000304636.7:c.2932-6A>T | ENSP00000304408.3:n.2932-6A>T | |
| ENST00000317840.9:c.2527+2308A>T | ENSP00000315243.6:n.2527+2308A>T | |
| NM_000090.3:c.2932-6A>T , LRG_3t1:c.2932-6A>T | NP_000081.1:n.2932-6A>T | |
| NM_000090.4:c.2932-6A>T MANE Select | NP_000081.2:n.2932-6A>T |