Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.59836421A>G , CM000673.2:g.59836421A>G | GRCh38 |
| NC_000011.9:g.59603894A>G , CM000673.1:g.59603894A>G | GRCh37 |
| NC_000011.8:g.59360470A>G | NCBI36 |
| NG_008120.1:g.14081T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005142.3:c.872-412T>C MANE Select | NP_005133.2:n.872-412T>C |
| ENST00000257248.3:c.872-412T>C MANE Select | ENSP00000257248.2:n.872-412T>C |
| NM_005142.2:c.872-412T>C | NP_005133.2:n.872-412T>C |
| ENST00000257248.2:c.872-412T>C | ENSP00000257248.2:n.872-412T>C |
| ENST00000525058.5:c.*839-412T>C | ENSP00000433196.1:n.*839-412T>C |
| ENST00000533847.1:n.524-412T>C | |
| XM_011544939.1:c.830-412T>C | XP_011543241.1:n.830-412T>C |
| XM_011544939.3:c.830-412T>C | XP_011543241.1:n.830-412T>C |