Linked Data
ClinVar Variation Id:
489700
ClinVar RCV Id:
RCV000580544
dbSNP Id:
rs762926637
ExAC:
10:88676940 A / G
gnomAD v2:
10-88676940-A-G
gnomAD v4:
10-86917183-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.86917183A>G , CM000672.2:g.86917183A>G | GRCh38 |
| NC_000010.10:g.88676940A>G , CM000672.1:g.88676940A>G | GRCh37 |
| NC_000010.9:g.88666920A>G | NCBI36 |
| NG_009362.1:g.165545A>G , LRG_298:g.165545A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480152.3:c.725A>G | ENSP00000483569.2:p.Lys242Arg | |
| ENST00000635816.2:c.725A>G | ENSP00000489707.1:p.Lys242Arg | |
| ENST00000636056.2:c.725A>G | ENSP00000490273.1:p.Lys242Arg | |
| ENST00000372037.8:c.725A>G MANE Select | ENSP00000361107.2:p.Lys242Arg | |
| ENST00000635816.1:c.725A>G | ENSP00000489707.1:p.Lys242Arg | |
| ENST00000636056.1:c.725A>G | ENSP00000490273.1:p.Lys242Arg | |
| ENST00000638429.1:c.725A>G | ENSP00000492290.1:p.Lys242Arg | |
| ENST00000372037.7:c.725A>G | ENSP00000361107.1:p.Lys242Arg | |
| NM_004329.2:c.725A>G , LRG_298t1:c.725A>G | NP_004320.2:p.Lys242Arg | |
| XM_011540103.1:c.725A>G | XP_011538405.1:p.Lys242Arg | |
| XM_011540104.1:c.725A>G | XP_011538406.1:p.Lys242Arg | |
| XM_011540103.2:c.725A>G | XP_011538405.1:p.Lys242Arg | |
| XM_011540104.2:c.725A>G | XP_011538406.1:p.Lys242Arg | |
| NM_004329.3:c.725A>G MANE Select | NP_004320.2:p.Lys242Arg |