Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.18850557C= , CM000679.2:g.18850557C= | GRCh38 |
| NC_000017.10:g.18753870C= , CM000679.1:g.18753870C= | GRCh37 |
| NC_000017.9:g.18694595C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000441887.5:c.-33+8193C= | ENSP00000395127.1:n.-33+8193C= |
| XM_011524138.1:c.1319+8193C= | XP_011522440.1:n.1319+8193C= |