Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73419121A>G , CM000664.2:g.73419121A>G | GRCh38 |
| NC_000002.11:g.73646249A>G , CM000664.1:g.73646249A>G | GRCh37 |
| NC_000002.10:g.73499757A>G | NCBI36 |
| NG_011690.1:g.38367A>G , LRG_741:g.38367A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001378454.1:c.451-2A>G MANE Select | NP_001365383.1:n.451-2A>G |
| ENST00000613296.6:c.451-2A>G MANE Select | ENSP00000482968.1:n.451-2A>G |
| NM_015120.4:c.454-2A>G , LRG_741t1:c.454-2A>G | NP_055935.4:n.454-2A>G |
| ENST00000484298.5:c.325-2A>G | ENSP00000478155.1:n.325-2A>G |
| ENST00000613296.4:c.451-2A>G | ENSP00000482968.1:n.451-2A>G |
| ENST00000614410.4:c.451-2A>G | ENSP00000479094.1:n.451-2A>G |
| ENST00000682675.1:n.411-2A>G | |
| ENST00000682889.1:n.416-2A>G | |
| ENST00000684148.1:n.197-2A>G |