Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.20454804G>A , CM000676.2:g.20454804G>A | GRCh38 |
| NC_000014.8:g.20922963G>A , CM000676.1:g.20922963G>A | GRCh37 |
| NC_000014.7:g.19992803G>A | NCBI36 |
| NG_008718.1:g.4674G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000206542.9:c.-121C>T MANE Select | ENSP00000206542.4:n.-121C>T | |
| ENST00000206542.8:c.-121C>T | ENSP00000206542.4:n.-121C>T | |
| ENST00000553640.3:c.-121C>T | ENSP00000451580.1:n.-121C>T | |
| ENST00000556252.1:n.250C>T | ||
| ENST00000556439.1:n.286C>T | ||
| NM_017807.3:c.-121C>T | NP_060277.1:n.-121C>T | |
| XM_011536930.1:c.-182C>T | XP_011535232.1:n.-182C>T | |
| XM_011536931.1:c.-417C>T | XP_011535233.1:n.-417C>T | |
| XM_011536932.1:c.-421C>T | XP_011535234.1:n.-421C>T | |
| NM_017807.4:c.-121C>T MANE Select | NP_060277.1:n.-121C>T |