Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.183127499G= , CM000663.2:g.183127499G= | GRCh38 |
| NC_000001.10:g.183096634G= , CM000663.1:g.183096634G= | GRCh37 |
| NC_000001.9:g.181363257G= | NCBI36 |
| NG_011463.1:g.109040G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002293.4:c.3123+95G= MANE Select | NP_002284.3:n.3123+95G= |
| ENST00000258341.5:c.3123+95G= MANE Select | ENSP00000258341.3:n.3123+95G= |
| NM_002293.3:c.3123+95G= | NP_002284.3:n.3123+95G= |
| ENST00000258341.4:c.3123+95G= | ENSP00000258341.3:n.3123+95G= |
| ENST00000466964.1:n.685+95G= |