Linked Data
dbSNP Id:
rs9574
ExAC:
20:33764632 C / A
gnomAD v2:
20-33764632-C-A
gnomAD v3:
20-35176829-C-A
gnomAD v4:
20-35176829-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.35176829C>A , CM000682.2:g.35176829C>A | GRCh38 |
| NC_000020.10:g.33764632C>A , CM000682.1:g.33764632C>A | GRCh37 |
| NC_000020.9:g.33228293C>A | NCBI36 |
| NG_032899.1:g.9859C>A | |
| NG_032899.2:g.9859C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000216968.5:c.*16C>A MANE Select | ENSP00000216968.3:n.*16C>A | |
| ENST00000216968.4:c.*16C>A | ENSP00000216968.3:n.*16C>A | |
| ENST00000634509.1:c.94+383C>A | ENSP00000489456.1:n.94+383C>A | |
| ENST00000635377.1:c.502-258C>A | ||
| NM_006404.4:c.*16C>A | NP_006395.2:n.*16C>A | |
| XM_011528496.1:c.601+383C>A | XP_011526798.1:n.601+383C>A | |
| NM_001355008.1:c.-101-10958G>T | NP_001341937.1:n.-101-10958G>T | |
| NM_006404.5:c.*16C>A MANE Select | NP_006395.2:n.*16C>A | |
| NM_001355008.2:c.-101-10958G>T | NP_001341937.1:n.-101-10958G>T |