Linked Data
ClinVar Variation Id:
44998
dbSNP Id:
rs61744548
ExAC:
14:76905837 G / C
gnomAD v2:
14-76905837-G-C
gnomAD v3:
14-76439494-G-C
gnomAD v4:
14-76439494-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.76439494G>C , CM000676.2:g.76439494G>C | GRCh38 |
| NC_000014.8:g.76905837G>C , CM000676.1:g.76905837G>C | GRCh37 |
| NC_000014.7:g.75975590G>C | NCBI36 |
| NG_012278.1:g.73148G>C | |
| NG_012278.2:g.73148G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380887.7:c.141G>C | ENSP00000370270.2:p.Leu47= | |
| ENST00000505752.6:c.141G>C | ENSP00000423004.1:p.Leu47= | |
| ENST00000512784.6:c.156G>C | ENSP00000424992.2:p.Leu52= | |
| ENST00000644823.1:c.204G>C MANE Select | ENSP00000493776.1:p.Leu68= | |
| ENST00000380887.6:c.141G>C | ENSP00000370270.2:p.Leu47= | |
| ENST00000505752.5:c.141G>C | ENSP00000423004.1:p.Leu47= | |
| ENST00000507951.5:n.249G>C | ||
| ENST00000509242.5:c.141G>C | ENSP00000422488.1:p.Leu47= | |
| ENST00000512784.5:c.156G>C | ENSP00000424992.1:p.Leu52= | |
| ENST00000556177.1:c.141G>C | ENSP00000451658.1:p.Leu47= | |
| NM_004452.3:c.141G>C | NP_004443.3:p.Leu47= | |
| XM_005267404.2:c.204G>C | XP_005267461.1:p.Leu68= | |
| XM_011536547.1:c.204G>C | XP_011534849.1:p.Leu68= | |
| XM_011536548.1:c.141G>C | XP_011534850.1:p.Leu47= | |
| XM_011536549.1:c.141G>C | XP_011534851.1:p.Leu47= | |
| XM_011536550.1:c.141G>C | XP_011534852.1:p.Leu47= | |
| XM_011536551.1:c.141G>C | XP_011534853.1:p.Leu47= | |
| XM_011536552.1:c.141G>C | XP_011534854.1:p.Leu47= | |
| XM_011536553.1:c.204G>C | XP_011534855.1:p.Leu68= | |
| XM_011536554.1:c.204G>C | XP_011534856.1:p.Leu68= | |
| XR_943401.1:n.451G>C | ||
| XM_011536547.2:c.204G>C | XP_011534849.1:p.Leu68= | |
| XM_011536550.2:c.141G>C | XP_011534852.1:p.Leu47= | |
| XM_011536553.2:c.204G>C | XP_011534855.1:p.Leu68= | |
| XM_011536554.2:c.204G>C | XP_011534856.1:p.Leu68= | |
| XM_017021085.1:c.141G>C | XP_016876574.1:p.Leu47= | |
| XM_024449508.1:c.204G>C | XP_024305276.1:p.Leu68= | |
| XM_024449509.1:c.141G>C | XP_024305277.1:p.Leu47= | |
| XR_001750189.1:n.674G>C | ||
| XR_943401.2:n.674G>C | ||
| NM_001379180.1:c.204G>C MANE Select | NP_001366109.1:p.Leu68= | |
| NM_004452.4:c.141G>C | NP_004443.3:p.Leu47= |