Linked Data
ClinVar Variation Id:
338031
ClinVar RCV Id:
RCV000997763
dbSNP Id:
rs201853480
ExAC:
20:30226815 C / T
gnomAD v2:
20-30226815-C-T
gnomAD v3:
20-31639012-C-T
gnomAD v4:
20-31639012-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.31639012C>T , CM000682.2:g.31639012C>T | GRCh38 |
| NC_000020.10:g.30226815C>T , CM000682.1:g.30226815C>T | GRCh37 |
| NC_000020.9:g.29690476C>T | NCBI36 |
| NG_012180.1:g.6125C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376075.4:c.1-6C>T MANE Select | ENSP00000365243.3:n.1-6C>T | |
| ENST00000376075.3:c.1-6C>T | ENSP00000365243.3:n.1-6C>T | |
| ENST00000490030.1:n.31-6C>T | ||
| NM_032609.2:c.1-6C>T | NP_115998.2:n.1-6C>T | |
| XM_005260581.2:c.1-6C>T | XP_005260638.1:n.1-6C>T | |
| XM_005260581.3:c.1-6C>T | XP_005260638.1:n.1-6C>T | |
| NM_032609.3:c.1-6C>T MANE Select | NP_115998.2:n.1-6C>T |