Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.27404357G>C , CM000672.2:g.27404357G>C | GRCh38 |
| NC_000010.10:g.27693286G>C , CM000672.1:g.27693286G>C | GRCh37 |
| NC_000010.9:g.27733292G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642324.1:c.1212-1000C>G | ENSP00000495205.1:n.1212-1000C>G | |
| ENST00000438700.7:c.1212-1000C>G | ENSP00000417658.2:n.1212-1000C>G | |
| ENST00000622555.1:c.1212-1000C>G | ENSP00000479436.1:n.1212-1000C>G | |
| NM_001034842.3:c.1212-1000C>G | NP_001030014.2:n.1212-1000C>G | |
| XM_005252449.2:c.1090-1000C>G | XP_005252506.1:n.1090-1000C>G | |
| NM_001034842.4:c.1212-1000C>G | NP_001030014.2:n.1212-1000C>G | |
| NM_001034842.5:c.1212-1000C>G | NP_001030014.2:n.1212-1000C>G | |
| NM_001395743.1:c.1212-1000C>G | NP_001382672.1:n.1212-1000C>G |