Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131832762G>T , CM000668.2:g.131832762G>T | GRCh38 |
| NC_000006.11:g.132153902G>T , CM000668.1:g.132153902G>T | GRCh37 |
| NC_000006.10:g.132195595G>T | NCBI36 |
| NG_008206.1:g.29747G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647893.1:c.241-15014G>T MANE Select | ENSP00000498074.1:n.241-15014G>T | |
| ENST00000650507.1:c.247+6647G>T | ENSP00000497375.1:n.247+6647G>T | |
| ENST00000360971.6:c.241-15014G>T | ENSP00000354238.2:n.241-15014G>T | |
| ENST00000486853.1:n.261-15014G>T | ||
| ENST00000513998.5:c.241-15014G>T | ENSP00000422424.1:n.241-15014G>T | |
| NM_006208.2:c.241-15014G>T | NP_006199.2:n.241-15014G>T | |
| NM_006208.3:c.241-15014G>T MANE Select | NP_006199.2:n.241-15014G>T |