Linked Data
ClinVar Variation Id:
2606312
ClinVar RCV Id:
RCV003369153
dbSNP Id:
rs1334849525
gnomAD v2:
2-190428891-T-C
gnomAD v3:
2-189564165-T-C
gnomAD v4:
2-189564165-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189564165T>C , CM000664.2:g.189564165T>C | GRCh38 |
| NC_000002.11:g.190428891T>C , CM000664.1:g.190428891T>C | GRCh37 |
| NC_000002.10:g.190137136T>C | NCBI36 |
| NG_009027.1:g.21647A>G , LRG_837:g.21647A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261024.7:c.821A>G MANE Select | ENSP00000261024.3:p.His274Arg | |
| ENST00000261024.6:c.821A>G | ENSP00000261024.2:p.His274Arg | |
| NM_014585.5:c.821A>G , LRG_837t1:c.821A>G | NP_055400.1:p.His274Arg | |
| XM_005246505.1:c.701A>G | XP_005246562.1:p.His234Arg | |
| XM_005246505.2:c.701A>G | XP_005246562.1:p.His234Arg | |
| XM_017003938.2:c.701A>G | XP_016859427.1:p.His234Arg | |
| NM_014585.6:c.821A>G MANE Select | NP_055400.1:p.His274Arg |