Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52038226C>G , CM000666.2:g.52038226C>G | GRCh38 |
| NC_000004.11:g.52904392C>G , CM000666.1:g.52904392C>G | GRCh37 |
| NC_000004.10:g.52599149C>G | NCBI36 |
| NG_008891.1:g.5094G>C , LRG_204:g.5094G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000232.5:c.33+1G>C MANE Select | NP_000223.1:n.33+1G>C |
| ENST00000381431.10:c.33+1G>C MANE Select | ENSP00000370839.6:n.33+1G>C |
| NM_000232.4:c.33+1G>C , LRG_204t1:c.33+1G>C | NP_000223.1:n.33+1G>C |
| ENST00000381431.9:c.33+1G>C | ENSP00000370839.5:n.33+1G>C |
| ENST00000506357.5:c.19+1G>C | |
| XM_011534403.1:c.33+1G>C | XP_011532705.1:n.33+1G>C |