Linked Data
ClinVar Variation Id:
851204
ClinVar RCV Id:
RCV001055551
dbSNP Id:
rs1843588940
gnomAD v4:
10-86917313-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.86917313T>G , CM000672.2:g.86917313T>G | GRCh38 |
| NC_000010.10:g.88677070T>G , CM000672.1:g.88677070T>G | GRCh37 |
| NC_000010.9:g.88667050T>G | NCBI36 |
| NG_009362.1:g.165675T>G , LRG_298:g.165675T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480152.3:c.855T>G | ENSP00000483569.2:p.His285Gln | |
| ENST00000635816.2:c.855T>G | ENSP00000489707.1:p.His285Gln | |
| ENST00000636056.2:c.855T>G | ENSP00000490273.1:p.His285Gln | |
| ENST00000372037.8:c.855T>G MANE Select | ENSP00000361107.2:p.His285Gln | |
| ENST00000635816.1:c.855T>G | ENSP00000489707.1:p.His285Gln | |
| ENST00000636056.1:c.855T>G | ENSP00000490273.1:p.His285Gln | |
| ENST00000638429.1:c.855T>G | ENSP00000492290.1:p.His285Gln | |
| ENST00000372037.7:c.855T>G | ENSP00000361107.1:p.His285Gln | |
| NM_004329.2:c.855T>G , LRG_298t1:c.855T>G | NP_004320.2:p.His285Gln | |
| XM_011540103.1:c.855T>G | XP_011538405.1:p.His285Gln | |
| XM_011540104.1:c.855T>G | XP_011538406.1:p.His285Gln | |
| XM_011540103.2:c.855T>G | XP_011538405.1:p.His285Gln | |
| XM_011540104.2:c.855T>G | XP_011538406.1:p.His285Gln | |
| NM_004329.3:c.855T>G MANE Select | NP_004320.2:p.His285Gln |