Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20192782C>G , CM000675.2:g.20192782C>G | GRCh38 |
| NC_000013.10:g.20766921C>G , CM000675.1:g.20766921C>G | GRCh37 |
| NC_000013.9:g.19664921C>G | NCBI36 |
| NG_008358.1:g.5194G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382848.5:c.-23+1G>C MANE Select | ENSP00000372299.4:n.-23+1G>C | |
| ENST00000382848.4:c.-23+1G>C | ENSP00000372299.4:n.-23+1G>C | |
| NM_004004.5:c.-23+1G>C | NP_003995.2:n.-23+1G>C | |
| NM_004004.6:c.-23+1G>C MANE Select | NP_003995.2:n.-23+1G>C |