ClinVar RCV:
ClinVar Variation:
dbSNP:
MyVariant.info:
GRCh37
chr11:g.32417945T>G
Revel Score:
ENST00000527882
0.020
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.32396399T>G , CM000673.2:g.32396399T>G | GRCh38 |
| NC_000011.9:g.32417945T>G , CM000673.1:g.32417945T>G | GRCh37 |
| NC_000011.8:g.32374521T>G | NCBI36 |
| NG_009272.1:g.44143A>C , LRG_525:g.44143A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332351.9:c.1071A>C | ENSP00000331327.5:p.Arg357= | |
| ENST00000379077.9:c.*306A>C | ENSP00000368368.5:n.*306A>C | |
| ENST00000379079.8:c.471A>C | ENSP00000368370.2:p.Arg157= | |
| ENST00000448076.9:c.1122A>C | ENSP00000413452.5:p.Arg374= | |
| ENST00000452863.10:c.1122A>C MANE Select | ENSP00000415516.5:p.Arg374= | |
| ENST00000526685.2:n.576A>C | ||
| ENST00000639563.3:c.1071A>C | ENSP00000492269.3:p.Arg357= | |
| ENST00000639907.2:n.265A>C | ||
| ENST00000640146.2:c.447A>C | ENSP00000491984.2:p.Arg149= | |
| ENST00000650861.1:n.1703A>C | ||
| ENST00000651459.1:c.35+3549A>C | ||
| ENST00000651668.1:n.59A>C | ||
| ENST00000651794.1:n.865A>C | ||
| ENST00000651819.1:n.47A>C | ||
| ENST00000652579.1:n.282A>C | ||
| ENST00000652724.1:n.312A>C | ||
| ENST00000332351.7:c.1107A>C | ENSP00000331327.3:p.Arg369= | |
| ENST00000379077.7:c.*306A>C | ENSP00000368368.3:n.*306A>C | |
| ENST00000379079.6:c.471A>C | ENSP00000368370.2:p.Arg157= | |
| ENST00000448076.7:c.1107A>C | ENSP00000413452.3:p.Arg369= | |
| ENST00000452863.7:c.1056A>C | ENSP00000415516.3:p.Arg352= | |
| ENST00000526685.1:c.-67A>C | ENSP00000436292.1:n.-67A>C | |
| ENST00000527775.1:c.360A>C | ENSP00000435351.1:p.Arg120= | |
| ENST00000527882.5:c.178A>C | ||
| ENST00000530998.5:c.420A>C | ENSP00000435307.1:p.Arg140= | |
| NM_000378.4:c.1056A>C | NP_000369.3:p.Arg352= | |
| NM_001198551.1:c.471A>C , LRG_525t2:c.471A>C | NP_001185480.1:p.Arg157= | |
| NM_001198552.1:c.420A>C | NP_001185481.1:p.Arg140= | |
| NM_024424.3:c.1107A>C | NP_077742.2:p.Arg369= | |
| NM_024426.4:c.1107A>C | NP_077744.3:p.Arg369= | |
| NM_000378.5:c.1071A>C | NP_000369.4:p.Arg357= | |
| NM_024424.4:c.1122A>C | NP_077742.3:p.Arg374= | |
| NM_024426.5:c.1122A>C | NP_077744.4:p.Arg374= | |
| NM_001367854.1:c.-67A>C | NP_001354783.1:n.-67A>C | |
| NR_160306.1:n.1454A>C | ||
| NM_000378.6:c.1071A>C | NP_000369.4:p.Arg357= | |
| NM_001198552.2:c.420A>C | NP_001185481.1:p.Arg140= | |
| NM_024424.5:c.1122A>C | NP_077742.3:p.Arg374= | |
| NM_024426.6:c.1122A>C MANE Select | NP_077744.4:p.Arg374= |