Linked Data
ClinVar Variation Id:
406692
dbSNP Id:
rs554416372
ExAC:
11:32417943 C / T
gnomAD v2:
11-32417943-C-T
gnomAD v3:
11-32396397-C-T
gnomAD v4:
11-32396397-C-T
COSMIC:
COSM42121
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.32396397C>T , CM000673.2:g.32396397C>T | GRCh38 |
| NC_000011.9:g.32417943C>T , CM000673.1:g.32417943C>T | GRCh37 |
| NC_000011.8:g.32374519C>T | NCBI36 |
| NG_009272.1:g.44145G>A , LRG_525:g.44145G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332351.9:c.1073G>A | ENSP00000331327.5:p.Arg358His | |
| ENST00000379077.9:c.*308G>A | ENSP00000368368.5:n.*308G>A | |
| ENST00000379079.8:c.473G>A | ENSP00000368370.2:p.Arg158His | |
| ENST00000448076.9:c.1124G>A | ENSP00000413452.5:p.Arg375His | |
| ENST00000452863.10:c.1124G>A MANE Select | ENSP00000415516.5:p.Arg375His | |
| ENST00000526685.2:n.578G>A | ||
| ENST00000639563.3:c.1073G>A | ENSP00000492269.3:p.Arg358His | |
| ENST00000639907.2:n.267G>A | ||
| ENST00000640146.2:c.449G>A | ENSP00000491984.2:p.Arg150His | |
| ENST00000650861.1:n.1705G>A | ||
| ENST00000651459.1:c.35+3551G>A | ||
| ENST00000651668.1:n.61G>A | ||
| ENST00000651794.1:n.867G>A | ||
| ENST00000651819.1:n.49G>A | ||
| ENST00000652579.1:n.284G>A | ||
| ENST00000652724.1:n.314G>A | ||
| ENST00000332351.7:c.1109G>A | ENSP00000331327.3:p.Arg370His | |
| ENST00000379077.7:c.*308G>A | ENSP00000368368.3:n.*308G>A | |
| ENST00000379079.6:c.473G>A | ENSP00000368370.2:p.Arg158His | |
| ENST00000448076.7:c.1109G>A | ENSP00000413452.3:p.Arg370His | |
| ENST00000452863.7:c.1058G>A | ENSP00000415516.3:p.Arg353His | |
| ENST00000526685.1:c.-65G>A | ENSP00000436292.1:n.-65G>A | |
| ENST00000527775.1:c.362G>A | ENSP00000435351.1:p.Arg121His | |
| ENST00000527882.5:c.180G>A | ||
| ENST00000530998.5:c.422G>A | ENSP00000435307.1:p.Arg141His | |
| NM_000378.4:c.1058G>A | NP_000369.3:p.Arg353His | |
| NM_001198551.1:c.473G>A , LRG_525t2:c.473G>A | NP_001185480.1:p.Arg158His | |
| NM_001198552.1:c.422G>A | NP_001185481.1:p.Arg141His | |
| NM_024424.3:c.1109G>A | NP_077742.2:p.Arg370His | |
| NM_024426.4:c.1109G>A | NP_077744.3:p.Arg370His | |
| NM_000378.5:c.1073G>A | NP_000369.4:p.Arg358His | |
| NM_024424.4:c.1124G>A | NP_077742.3:p.Arg375His | |
| NM_024426.5:c.1124G>A | NP_077744.4:p.Arg375His | |
| NM_001367854.1:c.-65G>A | NP_001354783.1:n.-65G>A | |
| NR_160306.1:n.1456G>A | ||
| NM_000378.6:c.1073G>A | NP_000369.4:p.Arg358His | |
| NM_001198552.2:c.422G>A | NP_001185481.1:p.Arg141His | |
| NM_024424.5:c.1124G>A | NP_077742.3:p.Arg375His | |
| NM_024426.6:c.1124G>A MANE Select | NP_077744.4:p.Arg375His |