Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.71719676A>T , CM000667.2:g.71719676A>T | GRCh38 |
| NC_000005.9:g.71015503A>T , CM000667.1:g.71015503A>T | GRCh37 |
| NC_000005.8:g.71051259A>T | NCBI36 |
| NG_015988.1:g.5514A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004291.4:c.160-204A>T MANE Select | NP_004282.1:n.160-204A>T |
| ENST00000296777.5:c.160-204A>T MANE Select | ENSP00000296777.4:n.160-204A>T |
| NM_004291.3:c.160-204A>T | NP_004282.1:n.160-204A>T |
| ENST00000296777.4:c.160-204A>T | ENSP00000296777.4:n.160-204A>T |
| ENST00000513096.1:n.98A>T |