Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.20454803A>C , CM000676.2:g.20454803A>C | GRCh38 |
| NC_000014.8:g.20922962A>C , CM000676.1:g.20922962A>C | GRCh37 |
| NC_000014.7:g.19992802A>C | NCBI36 |
| NG_008718.1:g.4673A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000206542.9:c.-120T>G MANE Select | ENSP00000206542.4:n.-120T>G | |
| ENST00000206542.8:c.-120T>G | ENSP00000206542.4:n.-120T>G | |
| ENST00000553640.3:c.-120T>G | ENSP00000451580.1:n.-120T>G | |
| ENST00000556252.1:n.251T>G | ||
| ENST00000556439.1:n.287T>G | ||
| NM_017807.3:c.-120T>G | NP_060277.1:n.-120T>G | |
| XM_011536930.1:c.-181T>G | XP_011535232.1:n.-181T>G | |
| XM_011536931.1:c.-416T>G | XP_011535233.1:n.-416T>G | |
| XM_011536932.1:c.-420T>G | XP_011535234.1:n.-420T>G | |
| NM_017807.4:c.-120T>G MANE Select | NP_060277.1:n.-120T>G |