Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43838939A>G , CM000664.2:g.43838939A>G | GRCh38 |
| NC_000002.11:g.44066078A>G , CM000664.1:g.44066078A>G | GRCh37 |
| NC_000002.10:g.43919582A>G | NCBI36 |
| NG_008883.1:g.4881T>C | |
| NG_008884.1:g.4976A>G | |
| NG_008884.2:g.11998A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643284.1:n.521-5568A>G | ||
| ENST00000644611.1:c.76-5568A>G | ENSP00000495423.1:n.76-5568A>G | |
| XM_011533029.1:c.76-5568A>G | XP_011531331.1:n.76-5568A>G | |
| XM_011533030.1:c.76-5568A>G | XP_011531332.1:n.76-5568A>G | |
| XM_011533031.1:c.-153-5568A>G | XP_011531333.1:n.-153-5568A>G | |
| XR_939707.1:n.566-5568A>G | ||
| XM_011533029.2:c.76-5568A>G | XP_011531331.1:n.76-5568A>G | |
| XM_011533030.2:c.76-5568A>G | XP_011531332.1:n.76-5568A>G | |
| XR_001738891.1:n.580-5568A>G | ||
| XR_939707.2:n.580-5568A>G |