Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.151686754A= , CM000668.2:g.151686754A= | GRCh38 |
| NC_000006.11:g.152007889A= , CM000668.1:g.152007889A= | GRCh37 |
| NC_000006.10:g.152049582A= | NCBI36 |
| NG_008493.1:g.1259A= | |
| NG_008493.2:g.35064A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001385568.1:c.-201-15121A= | NP_001372497.1:n.-201-15121A= |
| ENST00000473497.5:n.74-15121A= | |
| XM_017010376.1:c.-201-15121A= | XP_016865865.1:n.-201-15121A= |
| XM_017010377.1:c.-201-15121A= | XP_016865866.1:n.-201-15121A= |
| XM_017010380.1:c.-71+29991A= | XP_016865869.1:n.-71+29991A= |