Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47403079T>G , CM000664.2:g.47403079T>G | GRCh38 |
| NC_000002.11:g.47630218T>G , CM000664.1:g.47630218T>G | GRCh37 |
| NC_000002.10:g.47483722T>G | NCBI36 |
| NG_007110.2:g.4956T>G , LRG_218:g.4956T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000543555.6:c.-127T>G | ENSP00000442697.1:n.-127T>G | |
| ENST00000233146.6:c.-113T>G | ENSP00000233146.2:n.-113T>G | |
| ENST00000454849.5:c.-127T>G | ENSP00000411482.1:n.-127T>G | |
| ENST00000543555.5:c.-127T>G | ENSP00000442697.1:n.-127T>G | |
| NM_000251.2:c.-113T>G , LRG_218t1:c.-113T>G | NP_000242.1:n.-113T>G | |
| NM_001258281.1:c.-127T>G | NP_001245210.1:n.-127T>G |