Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52038114A>C , CM000666.2:g.52038114A>C | GRCh38 |
| NC_000004.11:g.52904280A>C , CM000666.1:g.52904280A>C | GRCh37 |
| NC_000004.10:g.52599037A>C | NCBI36 |
| NG_008891.1:g.5206T>G , LRG_204:g.5206T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381431.10:c.33+113T>G MANE Select | ENSP00000370839.6:n.33+113T>G | |
| ENST00000381431.9:c.33+113T>G | ENSP00000370839.5:n.33+113T>G | |
| ENST00000506357.5:c.19+113T>G | ||
| NM_000232.4:c.33+113T>G , LRG_204t1:c.33+113T>G | NP_000223.1:n.33+113T>G | |
| XM_011534403.1:c.33+113T>G | XP_011532705.1:n.33+113T>G | |
| NM_000232.5:c.33+113T>G MANE Select | NP_000223.1:n.33+113T>G |