Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5603256G>T , CM000669.2:g.5603256G>T | GRCh38 |
| NC_000007.13:g.5642887G>T , CM000669.1:g.5642887G>T | GRCh37 |
| NC_000007.12:g.5609413G>T | NCBI36 |
| NG_030004.1:g.15452G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382361.8:c.833-1G>T MANE Select | ENSP00000371798.3:n.833-1G>T | |
| ENST00000382361.7:c.833-1G>T | ENSP00000371798.3:n.833-1G>T | |
| ENST00000405801.2:c.-2-1G>T | ENSP00000383982.2:n.-2-1G>T | |
| ENST00000444748.5:c.-2-1G>T | ENSP00000404506.1:n.-2-1G>T | |
| ENST00000447103.5:c.-2-1G>T | ENSP00000409967.1:n.-2-1G>T | |
| ENST00000473330.1:n.385G>T | ||
| NM_003088.3:c.833-1G>T | NP_003079.1:n.833-1G>T | |
| NM_003088.4:c.833-1G>T MANE Select | NP_003079.1:n.833-1G>T |