Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115744826A>C , CM000663.2:g.115744826A>C | GRCh38 |
| NC_000001.10:g.116287447A>C , CM000663.1:g.116287447A>C | GRCh37 |
| NC_000001.9:g.116088970A>C | NCBI36 |
| NG_008802.1:g.28980T>G , LRG_404:g.28980T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001232.4:c.319+2T>G MANE Select | NP_001223.2:n.319+2T>G |
| ENST00000261448.6:c.319+2T>G MANE Select | ENSP00000261448.5:n.319+2T>G |
| NM_001232.3:c.319+2T>G , LRG_404t1:c.319+2T>G | NP_001223.2:n.319+2T>G |
| ENST00000261448.5:c.319+2T>G | ENSP00000261448.5:n.319+2T>G |
| ENST00000488931.2:c.43+2T>G | ENSP00000518226.1:n.43+2T>G |