Linked Data
ClinVar Variation Id:
2071381
ClinVar RCV Id:
RCV002975537
dbSNP Id:
rs757968778
ExAC:
20:44639620 C / T
gnomAD v2:
20-44639620-C-T
gnomAD v3:
20-46010981-C-T
gnomAD v4:
20-46010981-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46010981C>T , CM000682.2:g.46010981C>T | GRCh38 |
| NC_000020.10:g.44639620C>T , CM000682.1:g.44639620C>T | GRCh37 |
| NC_000020.9:g.44073027C>T | NCBI36 |
| NG_011468.1:g.7074C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372330.3:c.580C>T MANE Select | ENSP00000361405.3:p.Pro194Ser | |
| NM_004994.2:c.580C>T | NP_004985.2:p.Pro194Ser | |
| NM_004994.3:c.580C>T MANE Select | NP_004985.2:p.Pro194Ser |