Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48965344C= , CM000681.2:g.48965344C= | GRCh38 |
| NC_000019.9:g.49468601C= , CM000681.1:g.49468601C= | GRCh37 |
| NC_000019.8:g.54160413C= | NCBI36 |
| NG_008152.1:g.5036C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000146.4:c.-164C= MANE Select | NP_000137.2:n.-164C= |
| ENST00000331825.11:c.-164C= MANE Select | ENSP00000366525.2:n.-164C= |
| NM_000146.3:c.-164C= | NP_000137.2:n.-164C= |
| ENST00000331825.10:c.-164C= | ENSP00000366525.2:n.-164C= |
| ENST00000622577.2:c.-164C= | ENSP00000484043.1:n.-164C= |
| XM_024451447.1:c.347C= | XP_024307215.1:p.Ser116= |