Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.51380277G>T , CM000681.2:g.51380277G>T | GRCh38 |
| NC_000019.9:g.51883531G>T , CM000681.1:g.51883531G>T | GRCh37 |
| NC_000019.8:g.56575343G>T | NCBI36 |
| NG_012924.1:g.12680C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001161748.2:c.461-15C>A MANE Select | NP_001155220.1:n.461-15C>A |
| ENST00000596399.2:c.461-15C>A MANE Select | ENSP00000472090.2:n.461-15C>A |
| NM_001161748.1:c.461-15C>A | NP_001155220.1:n.461-15C>A |
| NM_030657.3:c.587-15C>A | NP_085915.2:n.587-15C>A |
| NM_030657.4:c.587-15C>A | NP_085915.2:n.587-15C>A |
| ENST00000221973.7:c.587-15C>A | ENSP00000221973.2:n.587-15C>A |
| ENST00000596399.1:c.461-15C>A | ENSP00000472090.1:n.461-15C>A |