Linked Data
dbSNP Id:
rs750846477
ExAC:
10:96827095 T / C
gnomAD v2:
10-96827095-T-C
gnomAD v4:
10-95067338-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.95067338T>C , CM000672.2:g.95067338T>C | GRCh38 |
| NC_000010.10:g.96827095T>C , CM000672.1:g.96827095T>C | GRCh37 |
| NC_000010.9:g.96817085T>C | NCBI36 |
| NG_007972.1:g.7160A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371270.6:c.351A>G MANE Select | ENSP00000360317.3:p.Gly117= | |
| ENST00000371270.5:c.351A>G | ENSP00000360317.3:p.Gly117= | |
| ENST00000479946.2:n.655A>G | ||
| ENST00000490994.6:c.*137A>G | ENSP00000433314.1:n.*137A>G | |
| ENST00000525991.5:c.226A>G | ENSP00000433842.1:p.Lys76Glu | |
| ENST00000526814.5:n.606A>G | ||
| ENST00000527420.5:c.351A>G | ENSP00000433191.1:p.Gly117= | |
| ENST00000527953.5:n.606A>G | ||
| ENST00000533320.5:n.585A>G | ||
| ENST00000535898.5:c.45A>G | ENSP00000445062.1:p.Gly15= | |
| ENST00000539050.5:c.141A>G | ENSP00000442343.2:p.Gly47= | |
| ENST00000623108.3:c.141A>G | ENSP00000485110.1:p.Gly47= | |
| ENST00000628935.1:c.93A>G | ENSP00000487145.1:p.Gly31= | |
| NM_000770.3:c.351A>G MANE Select | NP_000761.3:p.Gly117= | |
| NM_001198853.1:c.141A>G | NP_001185782.1:p.Gly47= | |
| NM_001198854.1:c.45A>G | NP_001185783.1:p.Gly15= | |
| NM_001198855.1:c.141A>G | NP_001185784.1:p.Gly47= | |
| XR_945610.1:n.447A>G |