Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43838949G>C , CM000664.2:g.43838949G>C | GRCh38 |
| NC_000002.11:g.44066088G>C , CM000664.1:g.44066088G>C | GRCh37 |
| NC_000002.10:g.43919592G>C | NCBI36 |
| NG_008883.1:g.4871C>G | |
| NG_008884.1:g.4986G>C | |
| NG_008884.2:g.12008G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643284.1:n.521-5558G>C | ||
| ENST00000644611.1:c.76-5558G>C | ENSP00000495423.1:n.76-5558G>C | |
| XM_011533029.1:c.76-5558G>C | XP_011531331.1:n.76-5558G>C | |
| XM_011533030.1:c.76-5558G>C | XP_011531332.1:n.76-5558G>C | |
| XM_011533031.1:c.-153-5558G>C | XP_011531333.1:n.-153-5558G>C | |
| XR_939707.1:n.566-5558G>C | ||
| XM_011533029.2:c.76-5558G>C | XP_011531331.1:n.76-5558G>C | |
| XM_011533030.2:c.76-5558G>C | XP_011531332.1:n.76-5558G>C | |
| XR_001738891.1:n.580-5558G>C | ||
| XR_939707.2:n.580-5558G>C |