Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.151666285G>A , CM000668.2:g.151666285G>A | GRCh38 |
| NC_000006.11:g.151987420G>A , CM000668.1:g.151987420G>A | GRCh37 |
| NC_000006.10:g.152029113G>A | NCBI36 |
| NG_008493.2:g.14595G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000473497.5:n.73+9522G>A | ||
| XM_017010376.1:c.-202+9522G>A | XP_016865865.1:n.-202+9522G>A | |
| XM_017010377.1:c.-260-105G>A | XP_016865866.1:n.-260-105G>A | |
| XM_017010380.1:c.-71+9522G>A | XP_016865869.1:n.-71+9522G>A | |
| NM_001385568.1:c.-202+9522G>A | NP_001372497.1:n.-202+9522G>A |