Linked Data
ClinVar Variation Id:
2521791
ClinVar RCV Id:
RCV003260402
dbSNP Id:
rs1317279643
gnomAD v2:
22-20780184-G-T
gnomAD v4:
22-20425897-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20425897G>T , CM000684.2:g.20425897G>T | GRCh38 |
| NC_000022.10:g.20780184G>T , CM000684.1:g.20780184G>T | GRCh37 |
| NC_000022.9:g.19110184G>T | NCBI36 |
| NG_031868.2:g.16963C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622235.5:c.2079C>A MANE Select | ENSP00000477564.2:p.Ser693Arg | |
| ENST00000615031.4:c.2094C>A | ENSP00000479389.1:p.Ser698Arg | |
| ENST00000622235.4:c.2079C>A | ENSP00000477564.1:p.Ser693Arg | |
| ENST00000623402.1:c.2094C>A | ENSP00000485276.1:p.Ser698Arg | |
| NM_153334.6:c.2094C>A | NP_699165.3:p.Ser698Arg | |
| NM_182895.4:c.2079C>A | NP_878315.2:p.Ser693Arg | |
| NM_153334.7:c.2094C>A | NP_699165.3:p.Ser698Arg | |
| NM_182895.5:c.2079C>A MANE Select | NP_878315.2:p.Ser693Arg |