Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.73196496T>C , CM000679.2:g.73196496T>C | GRCh38 |
| NC_000017.10:g.71192635T>C , CM000679.1:g.71192635T>C | GRCh37 |
| NC_000017.9:g.68704230T>C | NCBI36 |
| NG_008971.1:g.8463T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299886.9:c.316-11T>C MANE Select | ENSP00000299886.4:n.316-11T>C | |
| ENST00000299886.8:c.316-11T>C | ENSP00000299886.4:n.316-11T>C | |
| ENST00000438720.7:c.314-11T>C | ||
| ENST00000582587.2:c.302T>C | ||
| ENST00000618996.4:c.316-11T>C | ENSP00000479450.1:n.316-11T>C | |
| NM_018714.2:c.316-11T>C | NP_061184.1:n.316-11T>C | |
| NM_018714.3:c.316-11T>C MANE Select | NP_061184.1:n.316-11T>C |