Linked Data
dbSNP Id:
rs529725725
ExAC:
10:96796944 C / T
gnomAD v2:
10-96796944-C-T
gnomAD v3:
10-95037187-C-T
gnomAD v4:
10-95037187-C-T
MyVariant Identifiers:
chr10:g.96796944C>T (hg19)
chr10:g.96796944_96796945delinsTT (hg19)
chr10:g.95037187C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.95037187C>T , CM000672.2:g.95037187C>T | GRCh38 |
| NC_000010.10:g.96796944C>T , CM000672.1:g.96796944C>T | GRCh37 |
| NC_000010.9:g.96786934C>T | NCBI36 |
| NG_007972.1:g.37311G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371270.6:c.1414G>A MANE Select | ENSP00000360317.3:p.Val472Ile | |
| ENST00000371270.5:c.1414G>A | ENSP00000360317.3:p.Val472Ile | |
| ENST00000490994.6:c.*1200G>A | ENSP00000433314.1:n.*1200G>A | |
| ENST00000525991.5:c.*989G>A | ENSP00000433842.1:n.*989G>A | |
| ENST00000526814.5:n.1669G>A | ||
| ENST00000527420.5:c.*271G>A | ENSP00000433191.1:n.*271G>A | |
| ENST00000527953.5:n.1708G>A | ||
| ENST00000531714.1:n.602G>A | ||
| ENST00000533320.5:n.1648G>A | ||
| ENST00000535898.5:c.1108G>A | ENSP00000445062.1:p.Val370Ile | |
| ENST00000539050.5:c.1204G>A | ENSP00000442343.2:p.Val402Ile | |
| ENST00000623108.3:c.1204G>A | ENSP00000485110.1:p.Val402Ile | |
| NM_000770.3:c.1414G>A MANE Select | NP_000761.3:p.Val472Ile | |
| NM_001198853.1:c.1204G>A | NP_001185782.1:p.Val402Ile | |
| NM_001198854.1:c.1108G>A | NP_001185783.1:p.Val370Ile | |
| NM_001198855.1:c.1204G>A | NP_001185784.1:p.Val402Ile | |
| XR_945610.1:n.1549G>A |