Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88427371C>T , CM000678.2:g.88427371C>T | GRCh38 |
| NC_000016.9:g.88493779C>T , CM000678.1:g.88493779C>T | GRCh37 |
| NC_000016.8:g.87021280C>T | NCBI36 |
| NG_012236.2:g.4901C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000565624.3:c.-100C>T MANE Select | ENSP00000456500.2:n.-100C>T | |
| XM_011523386.1:c.-100C>T | XP_011521688.1:n.-100C>T | |
| XM_011523387.1:c.-100C>T | XP_011521689.1:n.-100C>T | |
| XM_011523388.1:c.-100C>T | XP_011521690.1:n.-100C>T | |
| XM_017023784.1:c.-100C>T | XP_016879273.1:n.-100C>T | |
| XM_017023785.1:c.-100C>T | XP_016879274.1:n.-100C>T | |
| XR_002957934.1:n.250+2593G>A | ||
| NM_001367624.2:c.-100C>T MANE Select | NP_001354553.1:n.-100C>T |