Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.20454827G= , CM000676.2:g.20454827G= | GRCh38 |
| NC_000014.8:g.20922986G= , CM000676.1:g.20922986G= | GRCh37 |
| NC_000014.7:g.19992826G= | NCBI36 |
| NG_008718.1:g.4697G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000206542.8:c.-144C= | ENSP00000206542.4:n.-144C= | |
| ENST00000556252.1:n.227C= | ||
| ENST00000556439.1:n.263C= | ||
| NM_017807.3:c.-144C= | NP_060277.1:n.-144C= | |
| XM_011536930.1:c.-205C= | XP_011535232.1:n.-205C= | |
| XM_011536931.1:c.-440C= | XP_011535233.1:n.-440C= |