Linked Data
ClinVar Variation Id:
7499
ClinVar RCV Id:
RCV000007928
dbSNP Id:
rs121909110
gnomAD v4:
14-76439682-C-T
PubMed:
PMID:18179891
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.76439682C>T , CM000676.2:g.76439682C>T | GRCh38 |
| NC_000014.8:g.76906025C>T , CM000676.1:g.76906025C>T | GRCh37 |
| NC_000014.7:g.75975778C>T | NCBI36 |
| NG_012278.1:g.73336C>T | |
| NG_012278.2:g.73336C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380887.7:c.329C>T | ENSP00000370270.2:p.Ala110Val | |
| ENST00000505752.6:c.329C>T | ENSP00000423004.1:p.Ala110Val | |
| ENST00000512784.6:c.344C>T | ENSP00000424992.2:p.Ala115Val | |
| ENST00000644823.1:c.392C>T MANE Select | ENSP00000493776.1:p.Ala131Val | |
| ENST00000380887.6:c.329C>T | ENSP00000370270.2:p.Ala110Val | |
| ENST00000505752.5:c.329C>T | ENSP00000423004.1:p.Ala110Val | |
| ENST00000507951.5:n.437C>T | ||
| ENST00000509242.5:c.329C>T | ENSP00000422488.1:p.Ala110Val | |
| ENST00000509323.1:n.41C>T | ||
| ENST00000512784.5:c.344C>T | ENSP00000424992.1:p.Ala115Val | |
| ENST00000556177.1:c.329C>T | ENSP00000451658.1:p.Ala110Val | |
| NM_004452.3:c.329C>T | NP_004443.3:p.Ala110Val | |
| XM_005267404.2:c.392C>T | XP_005267461.1:p.Ala131Val | |
| XM_011536547.1:c.392C>T | XP_011534849.1:p.Ala131Val | |
| XM_011536548.1:c.329C>T | XP_011534850.1:p.Ala110Val | |
| XM_011536549.1:c.329C>T | XP_011534851.1:p.Ala110Val | |
| XM_011536550.1:c.329C>T | XP_011534852.1:p.Ala110Val | |
| XM_011536551.1:c.329C>T | XP_011534853.1:p.Ala110Val | |
| XM_011536552.1:c.329C>T | XP_011534854.1:p.Ala110Val | |
| XM_011536553.1:c.392C>T | XP_011534855.1:p.Ala131Val | |
| XM_011536554.1:c.392C>T | XP_011534856.1:p.Ala131Val | |
| XR_943401.1:n.639C>T | ||
| XM_011536547.2:c.392C>T | XP_011534849.1:p.Ala131Val | |
| XM_011536550.2:c.329C>T | XP_011534852.1:p.Ala110Val | |
| XM_011536553.2:c.392C>T | XP_011534855.1:p.Ala131Val | |
| XM_011536554.2:c.392C>T | XP_011534856.1:p.Ala131Val | |
| XM_017021085.1:c.329C>T | XP_016876574.1:p.Ala110Val | |
| XM_024449508.1:c.392C>T | XP_024305276.1:p.Ala131Val | |
| XM_024449509.1:c.329C>T | XP_024305277.1:p.Ala110Val | |
| XR_001750189.1:n.862C>T | ||
| XR_943401.2:n.862C>T | ||
| NM_001379180.1:c.392C>T MANE Select | NP_001366109.1:p.Ala131Val | |
| NM_004452.4:c.329C>T | NP_004443.3:p.Ala110Val |