Linked Data
dbSNP Id:
rs2033591226
gnomAD v3:
10-95067320-G-A
gnomAD v4:
10-95067320-G-A
MyVariant Identifiers:
chr10:g.96827077G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.95067320G>A , CM000672.2:g.95067320G>A | GRCh38 |
| NC_000010.10:g.96827077G>A , CM000672.1:g.96827077G>A | GRCh37 |
| NC_000010.9:g.96817067G>A | NCBI36 |
| NG_007972.1:g.7178C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371270.6:c.369C>T MANE Select | ENSP00000360317.3:p.Ile123= | |
| ENST00000371270.5:c.369C>T | ENSP00000360317.3:p.Ile123= | |
| ENST00000479946.2:n.673C>T | ||
| ENST00000490994.6:c.*155C>T | ENSP00000433314.1:n.*155C>T | |
| ENST00000525991.5:c.244C>T | ENSP00000433842.1:p.Pro82Ser | |
| ENST00000526814.5:n.624C>T | ||
| ENST00000527420.5:c.369C>T | ENSP00000433191.1:p.Ile123= | |
| ENST00000527953.5:n.624C>T | ||
| ENST00000533320.5:n.603C>T | ||
| ENST00000535898.5:c.63C>T | ENSP00000445062.1:p.Ile21= | |
| ENST00000539050.5:c.159C>T | ENSP00000442343.2:p.Ile53= | |
| ENST00000623108.3:c.159C>T | ENSP00000485110.1:p.Ile53= | |
| ENST00000628935.1:c.111C>T | ENSP00000487145.1:p.Ile37= | |
| NM_000770.3:c.369C>T MANE Select | NP_000761.3:p.Ile123= | |
| NM_001198853.1:c.159C>T | NP_001185782.1:p.Ile53= | |
| NM_001198854.1:c.63C>T | NP_001185783.1:p.Ile21= | |
| NM_001198855.1:c.159C>T | NP_001185784.1:p.Ile53= | |
| XR_945610.1:n.465C>T |