Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20189446C>G , CM000675.2:g.20189446C>G | GRCh38 |
| NC_000013.10:g.20763585C>G , CM000675.1:g.20763585C>G | GRCh37 |
| NC_000013.9:g.19661585C>G | NCBI36 |
| NG_008358.1:g.8530G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382844.2:c.136G>C | ENSP00000372295.1:p.Asp46His | |
| ENST00000382848.5:c.136G>C MANE Select | ENSP00000372299.4:p.Asp46His | |
| ENST00000382844.1:c.136G>C | ENSP00000372295.1:p.Asp46His | |
| ENST00000382848.4:c.136G>C | ENSP00000372299.4:p.Asp46His | |
| NM_004004.5:c.136G>C | NP_003995.2:p.Asp46His | |
| XM_011535049.1:c.136G>C | XP_011533351.1:p.Asp46His | |
| XM_011535049.2:c.136G>C | XP_011533351.1:p.Asp46His | |
| NM_004004.6:c.136G>C MANE Select | NP_003995.2:p.Asp46His |