Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20192783C>T , CM000675.2:g.20192783C>T | GRCh38 |
| NC_000013.10:g.20766922C>T , CM000675.1:g.20766922C>T | GRCh37 |
| NC_000013.9:g.19664922C>T | NCBI36 |
| NG_008358.1:g.5193G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004004.6:c.-23G>A MANE Select | NP_003995.2:n.-23G>A |
| ENST00000382848.5:c.-23G>A MANE Select | ENSP00000372299.4:n.-23G>A |
| NM_004004.5:c.-23G>A | NP_003995.2:n.-23G>A |
| ENST00000382848.4:c.-23G>A | ENSP00000372299.4:n.-23G>A |