Linked Data
dbSNP Id:
rs764800547
ExAC:
20:44576404 C / T
gnomAD v2:
20-44576404-C-T
gnomAD v3:
20-45947765-C-T
gnomAD v4:
20-45947765-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.45947765C>T , CM000682.2:g.45947765C>T | GRCh38 |
| NC_000020.10:g.44576404C>T , CM000682.1:g.44576404C>T | GRCh37 |
| NC_000020.9:g.44009811C>T | NCBI36 |
| NG_029772.1:g.29430G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372409.8:c.*10C>T MANE Select | ENSP00000361486.3:n.*10C>T | |
| ENST00000372409.7:c.*10C>T | ENSP00000361486.3:n.*10C>T | |
| ENST00000479348.2:c.1066C>T | ||
| NM_022104.3:c.*10C>T | NP_071387.1:n.*10C>T | |
| XM_011528980.1:c.*10C>T | XP_011527282.1:n.*10C>T | |
| XM_011528981.1:c.*10C>T | XP_011527283.1:n.*10C>T | |
| XM_011528982.1:c.*10C>T | XP_011527284.1:n.*10C>T | |
| XM_011528980.3:c.*10C>T | XP_011527282.1:n.*10C>T | |
| XM_011528981.3:c.*10C>T | XP_011527283.1:n.*10C>T | |
| XM_017028013.2:c.*10C>T | XP_016883502.1:n.*10C>T | |
| XM_017028014.2:c.*10C>T | XP_016883503.1:n.*10C>T | |
| NM_022104.4:c.*10C>T MANE Select | NP_071387.1:n.*10C>T |