Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.49995201C>A , CM000679.2:g.49995201C>A | GRCh38 |
| NC_000017.10:g.48072565C>A , CM000679.1:g.48072565C>A | GRCh37 |
| NC_000017.9:g.45427564C>A | NCBI36 |
| NG_023063.1:g.5024G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000434704.2:c.-203G>T MANE Select | ENSP00000389870.2:n.-203G>T | |
| NM_005220.2:c.-203G>T | NP_005211.1:n.-203G>T | |
| XM_011524458.1:c.-203G>T | XP_011522760.1:n.-203G>T | |
| NM_005220.3:c.-203G>T MANE Select | NP_005211.1:n.-203G>T |