Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135817147T>C , CM000664.2:g.135817147T>C | GRCh38 |
| NC_000002.11:g.136574717T>C , CM000664.1:g.136574717T>C | GRCh37 |
| NC_000002.10:g.136291187T>C | NCBI36 |
| NG_008104.2:g.43023A>G , LRG_338:g.43023A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264162.7:c.1707+194A>G MANE Select | ENSP00000264162.2:n.1707+194A>G | |
| ENST00000264162.6:c.1707+194A>G | ENSP00000264162.2:n.1707+194A>G | |
| NM_002299.2:c.1707+194A>G , LRG_338t1:c.1707+194A>G | NP_002290.2:n.1707+194A>G | |
| NM_002299.3:c.1707+194A>G | NP_002290.2:n.1707+194A>G | |
| XM_017004088.2:c.1707+194A>G | XP_016859577.1:n.1707+194A>G | |
| NM_002299.4:c.1707+194A>G MANE Select | NP_002290.2:n.1707+194A>G |