Linked Data
ClinVar Variation Id:
214130
ClinVar RCV Id:
RCV000198592
dbSNP Id:
rs373113507
gnomAD v4:
20-59032241-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.59032241T>G , CM000682.2:g.59032241T>G | GRCh38 |
| NC_000020.10:g.57607296T>G , CM000682.1:g.57607296T>G | GRCh37 |
| NC_000020.9:g.57040691T>G | NCBI36 |
| NG_031871.1:g.5127A>C | |
| NG_031871.2:g.5127A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243997.8:c.11A>C MANE Select | ENSP00000243997.3:p.Tyr4Ser | |
| ENST00000243997.7:c.11A>C | ENSP00000243997.3:p.Tyr4Ser | |
| ENST00000395659.1:c.11A>C | ENSP00000379019.1:p.Tyr4Ser | |
| ENST00000395663.1:c.11A>C | ENSP00000379023.1:p.Tyr4Ser | |
| NM_006886.3:c.11A>C | NP_008817.1:p.Tyr4Ser | |
| NR_037929.1:n.737-1812A>C | ||
| NR_037930.1:n.478-1812A>C | ||
| NM_006886.4:c.11A>C MANE Select | NP_008817.1:p.Tyr4Ser |