Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20188898G>T , CM000675.2:g.20188898G>T | GRCh38 |
| NC_000013.10:g.20763037G>T , CM000675.1:g.20763037G>T | GRCh37 |
| NC_000013.9:g.19661037G>T | NCBI36 |
| NG_008358.1:g.9078C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382844.2:c.*3C>A | ENSP00000372295.1:n.*3C>A | |
| ENST00000382848.5:c.*3C>A MANE Select | ENSP00000372299.4:n.*3C>A | |
| ENST00000382844.1:c.*3C>A | ENSP00000372295.1:n.*3C>A | |
| ENST00000382848.4:c.*3C>A | ENSP00000372299.4:n.*3C>A | |
| NM_004004.5:c.*3C>A | NP_003995.2:n.*3C>A | |
| XM_011535049.1:c.*3C>A | XP_011533351.1:n.*3C>A | |
| XM_011535049.2:c.*3C>A | XP_011533351.1:n.*3C>A | |
| NM_004004.6:c.*3C>A MANE Select | NP_003995.2:n.*3C>A |