Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56450132G>T , CM000674.2:g.56450132G>T | GRCh38 |
| NC_000012.11:g.56843916G>T , CM000674.1:g.56843916G>T | GRCh37 |
| NC_000012.10:g.55130183G>T | NCBI36 |
| NG_021397.1:g.9520C>A | |
| NG_021397.2:g.24035C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648304.1:c.*1564C>A | ENSP00000497190.1:n.*1564C>A | |
| ENST00000652304.1:c.*1148C>A MANE Select | ENSP00000498622.1:n.*1148C>A | |
| ENST00000257979.4:c.*1148C>A | ENSP00000257979.4:n.*1148C>A | |
| NM_012064.3:c.*1148C>A | NP_036196.1:n.*1148C>A | |
| XM_011538354.1:c.*1148C>A | XP_011536656.1:n.*1148C>A | |
| NM_012064.4:c.*1148C>A MANE Select | NP_036196.1:n.*1148C>A | |
| XM_017019306.1:c.*1148C>A | XP_016874795.1:n.*1148C>A |