Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.85475999A>C , CM000670.2:g.85475999A>C | GRCh38 |
| NC_000008.10:g.86388228A>C , CM000670.1:g.86388228A>C | GRCh37 |
| NC_000008.9:g.86575480A>C | NCBI36 |
| NG_007287.1:g.16983A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000067.3:c.507+139A>C MANE Select | NP_000058.1:n.507+139A>C |
| ENST00000285379.10:c.507+139A>C MANE Select | ENSP00000285379.4:n.507+139A>C |
| NM_000067.2:c.507+139A>C | NP_000058.1:n.507+139A>C |
| NM_001293675.1:c.204+139A>C | NP_001280604.1:n.204+139A>C |
| NM_001293675.2:c.204+139A>C | NP_001280604.1:n.204+139A>C |
| ENST00000285379.9:c.507+139A>C | ENSP00000285379.4:n.507+139A>C |
| ENST00000520127.5:c.*94+139A>C | ENSP00000428443.1:n.*94+139A>C |
| ENST00000522742.1:c.*281+139A>C | ENSP00000428947.1:n.*281+139A>C |