Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32275378G= , CM000668.2:g.32275378G= | GRCh38 |
| NC_000006.11:g.32243155G= , CM000668.1:g.32243155G= | GRCh37 |
| NC_000006.10:g.32351133G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_136244.1:n.440+12569G= | |
| NR_136245.1:n.242+19964G= | |
| NR_136246.1:n.242+19964G= | |
| XM_011515039.1:c.421+12569G= | XP_011513341.1:n.421+12569G= |
| XM_011515040.1:c.421+12569G= | XP_011513342.1:n.421+12569G= |