Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.85477119G>C , CM000670.2:g.85477119G>C | GRCh38 |
| NC_000008.10:g.86389348G>C , CM000670.1:g.86389348G>C | GRCh37 |
| NC_000008.9:g.86576600G>C | NCBI36 |
| NG_007287.1:g.18103G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000067.3:c.508-1G>C MANE Select | NP_000058.1:n.508-1G>C |
| ENST00000285379.10:c.508-1G>C MANE Select | ENSP00000285379.4:n.508-1G>C |
| NM_000067.2:c.508-1G>C | NP_000058.1:n.508-1G>C |
| NM_001293675.1:c.205-1G>C | NP_001280604.1:n.205-1G>C |
| NM_001293675.2:c.205-1G>C | NP_001280604.1:n.205-1G>C |
| ENST00000285379.9:c.508-1G>C | ENSP00000285379.4:n.508-1G>C |
| ENST00000520127.5:c.*95-1G>C | ENSP00000428443.1:n.*95-1G>C |
| ENST00000522742.1:c.*282-1G>C | ENSP00000428947.1:n.*282-1G>C |