gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.48997291G>A , CM000664.2:g.48997291G>A | GRCh38 |
| NC_000002.11:g.49224430G>A , CM000664.1:g.49224430G>A | GRCh37 |
| NC_000002.10:g.49077934G>A | NCBI36 |
| NG_008146.1:g.162201C>T , LRG_536:g.162201C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000406846.7:c.375-6654C>T MANE Select | ENSP00000384708.2:n.375-6654C>T | |
| ENST00000304421.8:c.375-6654C>T | ENSP00000306780.4:n.375-6654C>T | |
| ENST00000406846.6:c.375-6654C>T | ENSP00000384708.2:n.375-6654C>T | |
| ENST00000419927.1:c.*167-6654C>T | ENSP00000405775.1:n.*167-6654C>T | |
| ENST00000454032.5:c.375-6654C>T | ENSP00000415504.1:n.375-6654C>T | |
| ENST00000469138.5:n.23C>T | ||
| NM_000145.3:c.375-6654C>T , LRG_536t1:c.375-6654C>T | NP_000136.2:n.375-6654C>T | |
| NM_181446.2:c.375-6654C>T | NP_852111.2:n.375-6654C>T | |
| XM_011532733.1:c.375-6654C>T | XP_011531035.1:n.375-6654C>T | |
| XM_011532734.1:c.42-6654C>T | XP_011531036.1:n.42-6654C>T | |
| XM_011532736.1:c.-531C>T | XP_011531038.1:n.-531C>T | |
| XM_011532737.1:c.375-6654C>T | XP_011531039.1:n.375-6654C>T | |
| XM_011532738.1:c.375-6654C>T | XP_011531040.1:n.375-6654C>T | |
| XM_011532739.1:c.375-6654C>T | XP_011531041.1:n.375-6654C>T | |
| XM_011532740.1:c.375-6654C>T | XP_011531042.1:n.375-6654C>T | |
| XM_011532733.2:c.375-6654C>T | XP_011531035.1:n.375-6654C>T | |
| XM_011532734.2:c.42-6654C>T | XP_011531036.1:n.42-6654C>T | |
| XM_011532736.2:c.-531C>T | XP_011531038.1:n.-531C>T | |
| NM_000145.4:c.375-6654C>T MANE Select | NP_000136.2:n.375-6654C>T | |
| NM_181446.3:c.375-6654C>T | NP_852111.2:n.375-6654C>T |