Linked Data
ClinVar Variation Id:
780087
ClinVar RCV Id:
RCV000961103
dbSNP Id:
rs2298804
ExAC:
1:159273892 A / G
gnomAD v2:
1-159273892-A-G
gnomAD v3:
1-159304102-A-G
gnomAD v4:
1-159304102-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.159304102A>G , CM000663.2:g.159304102A>G | GRCh38 |
| NC_000001.10:g.159273892A>G , CM000663.1:g.159273892A>G | GRCh37 |
| NC_000001.9:g.157540516A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000693622.1:c.251A>G MANE Select | ENSP00000509626.1:p.Lys84Arg | |
| ENST00000368114.1:c.152A>G | ENSP00000357096.1:p.Lys51Arg | |
| ENST00000368115.5:c.251A>G | ENSP00000357097.1:p.Lys84Arg | |
| NM_002001.3:c.251A>G | NP_001992.1:p.Lys84Arg | |
| NM_001387280.1:c.251A>G MANE Select | NP_001374209.1:p.Lys84Arg | |
| NM_001387281.1:c.76+1228A>G | NP_001374210.1:n.76+1228A>G | |
| NM_001387282.1:c.152A>G | NP_001374211.1:p.Lys51Arg | |
| NM_002001.4:c.251A>G | NP_001992.1:p.Lys84Arg |