Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.151687645C= , CM000668.2:g.151687645C= | GRCh38 |
| NC_000006.11:g.152008780C= , CM000668.1:g.152008780C= | GRCh37 |
| NC_000006.10:g.152050473C= | NCBI36 |
| NG_008493.1:g.2150C= | |
| NG_008493.2:g.35955C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001385568.1:c.-201-14230C= | NP_001372497.1:n.-201-14230C= |
| ENST00000473497.5:n.74-14230C= | |
| XM_017010376.1:c.-201-14230C= | XP_016865865.1:n.-201-14230C= |
| XM_017010377.1:c.-201-14230C= | XP_016865866.1:n.-201-14230C= |
| XM_017010380.1:c.-71+30882C= | XP_016865869.1:n.-71+30882C= |