Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154379422T>G , CM000685.2:g.154379422T>G | GRCh38 |
| NC_000023.10:g.153607782T>G , CM000685.1:g.153607782T>G | GRCh37 |
| NC_000023.9:g.153260976T>G | NCBI36 |
| NG_008677.1:g.9987T>G , LRG_745:g.9987T>G | |
| NG_011506.1:g.225A>C | |
| NG_011506.2:g.217A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682114.1:c.-63T>G | ENSP00000507245.1:n.-63T>G | |
| ENST00000369842.9:c.-63T>G MANE Select | ENSP00000358857.4:n.-63T>G | |
| ENST00000369835.3:c.-63T>G | ENSP00000358850.3:n.-63T>G | |
| ENST00000369842.8:c.-63T>G | ENSP00000358857.4:n.-63T>G | |
| ENST00000428228.5:c.-63T>G | ENSP00000401081.1:n.-63T>G | |
| ENST00000485261.1:n.19T>G | ||
| ENST00000486738.5:n.82T>G | ||
| NM_000117.2:c.-63T>G , LRG_745t1:c.-63T>G | NP_000108.1:n.-63T>G | |
| XM_024452349.1:c.-271T>G | XP_024308117.1:n.-271T>G | |
| NM_000117.3:c.-63T>G MANE Select | NP_000108.1:n.-63T>G |