Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189008852G>T , CM000664.2:g.189008852G>T | GRCh38 |
| NC_000002.11:g.189873578G>T , CM000664.1:g.189873578G>T | GRCh37 |
| NC_000002.10:g.189581823G>T | NCBI36 |
| NG_007404.1:g.39480G>T , LRG_3:g.39480G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.3427-72G>T | ENSP00000415346.2:n.3427-72G>T | |
| ENST00000304636.9:c.3526-72G>T MANE Select | ENSP00000304408.4:n.3526-72G>T | |
| ENST00000304636.7:c.3526-72G>T | ENSP00000304408.3:n.3526-72G>T | |
| ENST00000317840.9:c.2617-72G>T | ENSP00000315243.6:n.2617-72G>T | |
| ENST00000487010.1:n.551G>T | ||
| NM_000090.3:c.3526-72G>T , LRG_3t1:c.3526-72G>T | NP_000081.1:n.3526-72G>T | |
| NM_000090.4:c.3526-72G>T MANE Select | NP_000081.2:n.3526-72G>T |