Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.4815317G>A , CM000669.2:g.4815317G>A | GRCh38 |
| NC_000007.13:g.4854948G>A , CM000669.1:g.4854948G>A | GRCh37 |
| NC_000007.12:g.4821474G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018059.5:c.2100C>T MANE Select | NP_060529.4:p.Thr700= |
| ENST00000399583.4:c.2100C>T MANE Select | ENSP00000382492.3:p.Thr700= |
| NM_018059.4:c.2100C>T | NP_060529.4:p.Thr700= |
| ENST00000399583.3:c.2100C>T | ENSP00000382492.3:p.Thr700= |
| ENST00000445392.5:c.*871C>T | ENSP00000413403.1:n.*871C>T |
| ENST00000469399.1:n.17C>T | |
| ENST00000473130.5:n.711C>T | |
| ENST00000484211.1:n.725C>T |