Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.74689127C>G , CM000667.2:g.74689127C>G | GRCh38 |
| NC_000005.9:g.73984952C>G , CM000667.1:g.73984952C>G | GRCh37 |
| NC_000005.8:g.74020708C>G | NCBI36 |
| NG_009770.1:g.8984C>G | |
| NG_009770.2:g.54105C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261416.12:c.300-201C>G MANE Select | ENSP00000261416.7:n.300-201C>G | |
| ENST00000261416.11:c.300-201C>G | ENSP00000261416.7:n.300-201C>G | |
| ENST00000511181.5:c.-376-201C>G | ENSP00000426285.1:n.-376-201C>G | |
| ENST00000513079.5:n.365-201C>G | ||
| ENST00000515528.1:n.355-201C>G | ||
| NM_000521.3:c.300-201C>G | NP_000512.1:n.300-201C>G | |
| NM_001292004.1:c.-376-201C>G | NP_001278933.1:n.-376-201C>G | |
| NM_000521.4:c.300-201C>G MANE Select | NP_000512.2:n.300-201C>G | |
| NM_001292004.2:c.-376-201C>G | NP_001278933.1:n.-376-201C>G |