Linked Data
ClinVar Variation Id:
3153014
ClinVar RCV Id:
RCV004445915
dbSNP Id:
rs1006002943
gnomAD v2:
1-8420456-G-C
gnomAD v3:
1-8360396-G-C
gnomAD v4:
1-8360396-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.8360396G>C , CM000663.2:g.8360396G>C | GRCh38 |
| NC_000001.10:g.8420456G>C , CM000663.1:g.8420456G>C | GRCh37 |
| NC_000001.9:g.8343043G>C | NCBI36 |
| NG_047035.1:g.462296C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465125.2:c.1449C>G | ENSP00000515651.1:p.His483Gln | |
| ENST00000400908.7:c.3111C>G MANE Select | ENSP00000383700.2:p.His1037Gln | |
| ENST00000337907.7:c.3111C>G | ENSP00000338629.3:p.His1037Gln | |
| ENST00000377464.5:c.2307C>G | ENSP00000366684.1:p.His769Gln | |
| ENST00000400907.6:c.1540+4350C>G | ENSP00000383699.2:n.1540+4350C>G | |
| ENST00000400908.6:c.3111C>G | ENSP00000383700.2:p.His1037Gln | |
| ENST00000476556.5:c.1449C>G | ENSP00000422246.1:p.His483Gln | |
| ENST00000505225.1:c.307+1064C>G | ENSP00000423451.1:n.307+1064C>G | |
| NM_001042681.1:c.3111C>G | NP_001036146.1:p.His1037Gln | |
| NM_001042682.1:c.1449C>G | NP_001036147.1:p.His483Gln | |
| NM_012102.3:c.3111C>G | NP_036234.3:p.His1037Gln | |
| XM_005263464.1:c.3111C>G | XP_005263521.1:p.His1037Gln | |
| XM_005263466.1:c.2307C>G | XP_005263523.1:p.His769Gln | |
| XM_006710653.1:c.3111C>G | XP_006710716.1:p.His1037Gln | |
| XM_011541510.1:c.2985C>G | XP_011539812.1:p.His995Gln | |
| XM_011541511.1:c.3111C>G | XP_011539813.1:p.His1037Gln | |
| XM_005263464.2:c.3111C>G | XP_005263521.1:p.His1037Gln | |
| XM_011541510.2:c.2985C>G | XP_011539812.1:p.His995Gln | |
| XM_011541511.2:c.3111C>G | XP_011539813.1:p.His1037Gln | |
| XM_017001358.1:c.3111C>G | XP_016856847.1:p.His1037Gln | |
| XM_017001359.1:c.3111C>G | XP_016856848.1:p.His1037Gln | |
| NM_001042681.2:c.3111C>G MANE Select | NP_001036146.1:p.His1037Gln | |
| NM_001042682.2:c.1449C>G | NP_001036147.1:p.His483Gln | |
| NM_012102.4:c.3111C>G | NP_036234.3:p.His1037Gln |