Linked Data
ClinVar Variation Id:
968083
ClinVar RCV Id:
RCV001243136
dbSNP Id:
rs772822466
gnomAD v2:
11-32414225-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.32392679T>G , CM000673.2:g.32392679T>G | GRCh38 |
| NC_000011.9:g.32414225T>G , CM000673.1:g.32414225T>G | GRCh37 |
| NC_000011.8:g.32370801T>G | NCBI36 |
| NG_009272.1:g.47863A>C , LRG_525:g.47863A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000332351.9:c.1290A>C | ENSP00000331327.5:p.Gln430His | |
| ENST00000379077.9:c.*525A>C | ENSP00000368368.5:n.*525A>C | |
| ENST00000379079.8:c.690A>C | ENSP00000368370.2:p.Gln230His | |
| ENST00000448076.9:c.1341A>C | ENSP00000413452.5:p.Gln447His | |
| ENST00000452863.10:c.1341A>C MANE Select | ENSP00000415516.5:p.Gln447His | |
| ENST00000526685.2:n.795A>C | ||
| ENST00000639563.3:c.1290A>C | ENSP00000492269.3:p.Gln430His | |
| ENST00000639907.2:n.484A>C | ||
| ENST00000640146.2:c.666A>C | ENSP00000491984.2:p.Gln222His | |
| ENST00000650745.1:n.550A>C | ||
| ENST00000650861.1:n.1922A>C | ||
| ENST00000651459.1:c.112A>C | ||
| ENST00000651533.1:n.387A>C | ||
| ENST00000651668.1:n.278A>C | ||
| ENST00000651794.1:n.1184A>C | ||
| ENST00000651819.1:n.266A>C | ||
| ENST00000652579.1:n.601A>C | ||
| ENST00000652724.1:n.531A>C | ||
| ENST00000332351.7:c.1326A>C | ENSP00000331327.3:p.Gln442His | |
| ENST00000379077.7:c.*525A>C | ENSP00000368368.3:n.*525A>C | |
| ENST00000379079.6:c.690A>C | ENSP00000368370.2:p.Gln230His | |
| ENST00000448076.7:c.1326A>C | ENSP00000413452.3:p.Gln442His | |
| ENST00000452863.7:c.1275A>C | ENSP00000415516.3:p.Gln425His | |
| ENST00000527882.5:c.321-615A>C | ||
| ENST00000530998.5:c.639A>C | ENSP00000435307.1:p.Gln213His | |
| NM_000378.4:c.1275A>C | NP_000369.3:p.Gln425His | |
| NM_001198551.1:c.690A>C , LRG_525t2:c.690A>C | NP_001185480.1:p.Gln230His | |
| NM_001198552.1:c.639A>C | NP_001185481.1:p.Gln213His | |
| NM_024424.3:c.1326A>C | NP_077742.2:p.Gln442His | |
| NM_024426.4:c.1326A>C | NP_077744.3:p.Gln442His | |
| NM_000378.5:c.1290A>C | NP_000369.4:p.Gln430His | |
| NM_024424.4:c.1341A>C | NP_077742.3:p.Gln447His | |
| NM_024426.5:c.1341A>C | NP_077744.4:p.Gln447His | |
| NM_001367854.1:c.153A>C | NP_001354783.1:p.Gln51His | |
| NR_160306.1:n.1673A>C | ||
| NM_000378.6:c.1290A>C | NP_000369.4:p.Gln430His | |
| NM_001198552.2:c.639A>C | NP_001185481.1:p.Gln213His | |
| NM_024424.5:c.1341A>C | NP_077742.3:p.Gln447His | |
| NM_024426.6:c.1341A>C MANE Select | NP_077744.4:p.Gln447His |