Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4682312G>C , CM000674.2:g.4682312G>C | GRCh38 |
| NC_000012.11:g.4791478G>C , CM000674.1:g.4791478G>C | GRCh37 |
| NC_000012.10:g.4661739G>C | NCBI36 |
| NG_032124.1:g.38215G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266544.10:c.896+12G>C MANE Select | ENSP00000266544.5:n.896+12G>C | |
| ENST00000648836.1:c.896+12G>C | ENSP00000497305.1:n.896+12G>C | |
| ENST00000266544.9:c.896+12G>C | ENSP00000266544.5:n.896+12G>C | |
| ENST00000543979.1:n.589+12G>C | ||
| ENST00000544741.2:c.173+12G>C | ENSP00000456318.2:n.173+12G>C | |
| NM_005002.4:c.896+12G>C | NP_004993.1:n.896+12G>C | |
| NM_005002.5:c.896+12G>C MANE Select | NP_004993.1:n.896+12G>C |