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