Linked Data
ClinVar Variation Id:
1351149
ClinVar RCV Id:
RCV002044515
dbSNP Id:
rs1336041021
gnomAD v2:
1-100357202-A-G
gnomAD v4:
1-99891646-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.99891646A>G , CM000663.2:g.99891646A>G | GRCh38 |
| NC_000001.10:g.100357202A>G , CM000663.1:g.100357202A>G | GRCh37 |
| NC_000001.9:g.100129790A>G | NCBI36 |
| NG_012865.1:g.46563A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361915.8:c.2990A>G MANE Select | ENSP00000355106.3:p.Gln997Arg | |
| ENST00000637337.1:n.3201A>G | ||
| ENST00000294724.8:c.2990A>G | ENSP00000294724.4:p.Gln997Arg | |
| ENST00000361302.7:c.2942A>G | ENSP00000354971.3:p.Gln981Arg | |
| ENST00000361522.4:c.2939A>G | ENSP00000354635.4:p.Gln980Arg | |
| ENST00000361915.7:c.2990A>G | ENSP00000355106.3:p.Gln997Arg | |
| ENST00000370161.6:c.2942A>G | ENSP00000359180.2:p.Gln981Arg | |
| ENST00000370163.7:c.2990A>G | ENSP00000359182.3:p.Gln997Arg | |
| ENST00000370165.7:c.2990A>G | ENSP00000359184.3:p.Gln997Arg | |
| NM_000028.2:c.2990A>G | NP_000019.2:p.Gln997Arg | |
| NM_000642.2:c.2990A>G | NP_000633.2:p.Gln997Arg | |
| NM_000643.2:c.2990A>G | NP_000634.2:p.Gln997Arg | |
| NM_000644.2:c.2990A>G | NP_000635.2:p.Gln997Arg | |
| NM_000645.2:c.2939A>G | NP_000636.2:p.Gln980Arg | |
| NM_000646.2:c.2942A>G | NP_000637.2:p.Gln981Arg | |
| XM_005270557.1:c.2990A>G | XP_005270614.1:p.Gln997Arg | |
| XM_005270557.2:c.2990A>G | XP_005270614.1:p.Gln997Arg | |
| XM_017000501.2:c.1250A>G | XP_016855990.1:p.Gln417Arg | |
| NM_000642.3:c.2990A>G MANE Select | NP_000633.2:p.Gln997Arg |