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