Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.170275463T>A , CM000665.2:g.170275463T>A | GRCh38 |
| NC_000003.11:g.169993251T>A , CM000665.1:g.169993251T>A | GRCh37 |
| NC_000003.10:g.171475945T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295797.5:c.705+176T>A MANE Select | ENSP00000295797.4:n.705+176T>A | |
| ENST00000295797.4:c.705+176T>A | ENSP00000295797.4:n.705+176T>A | |
| NM_002740.5:c.705+176T>A | NP_002731.4:n.705+176T>A | |
| XM_017006860.1:c.309+176T>A | XP_016862349.1:n.309+176T>A | |
| XR_001740206.1:n.870+176T>A | ||
| NM_002740.6:c.705+176T>A MANE Select | NP_002731.4:n.705+176T>A |