Linked Data
dbSNP Id:
rs570295953
gnomAD v2:
20-33763694-C-T
gnomAD v3:
20-35175891-C-T
gnomAD v4:
20-35175891-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.35175891C>T , CM000682.2:g.35175891C>T | GRCh38 |
| NC_000020.10:g.33763694C>T , CM000682.1:g.33763694C>T | GRCh37 |
| NC_000020.9:g.33227355C>T | NCBI36 |
| NG_032899.1:g.8921C>T | |
| NG_032899.2:g.8921C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216968.5:c.323-277C>T MANE Select | ENSP00000216968.3:n.323-277C>T | |
| ENST00000216968.4:c.323-277C>T | ENSP00000216968.3:n.323-277C>T | |
| ENST00000635377.1:c.223-277C>T | ||
| NM_006404.4:c.323-277C>T | NP_006395.2:n.323-277C>T | |
| XM_011528496.1:c.323-277C>T | XP_011526798.1:n.323-277C>T | |
| NM_001355008.1:c.-101-10020G>A | NP_001341937.1:n.-101-10020G>A | |
| NM_006404.5:c.323-277C>T MANE Select | NP_006395.2:n.323-277C>T | |
| NM_001355008.2:c.-101-10020G>A | NP_001341937.1:n.-101-10020G>A |