Linked Data
ClinVar Variation Id:
2981344
ClinVar RCV Id:
RCV003832486
dbSNP Id:
rs76775089
ExAC:
2:173292535 C / T
gnomAD v2:
2-173292535-C-T
gnomAD v3:
2-172427807-C-T
gnomAD v4:
2-172427807-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.172427807C>T , CM000664.2:g.172427807C>T | GRCh38 |
| NC_000002.11:g.173292535C>T , CM000664.1:g.173292535C>T | GRCh37 |
| NC_000002.10:g.173000781C>T | NCBI36 |
| NG_008853.1:g.5222C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264107.12:c.19C>T | ENSP00000264107.8:p.Leu7= | |
| ENST00000442250.6:c.19C>T MANE Plus Clinical | ENSP00000406694.1:p.Leu7= | |
| ENST00000684293.1:c.19C>T MANE Select | ENSP00000508249.1:p.Leu7= | |
| ENST00000409080.6:c.19C>T | ENSP00000386896.1:p.Leu7= | |
| ENST00000264107.11:c.19C>T | ENSP00000264107.7:p.Leu7= | |
| ENST00000409080.5:c.19C>T | ENSP00000386896.1:p.Leu7= | |
| ENST00000409532.5:c.-161+337C>T | ENSP00000386614.1:n.-161+337C>T | |
| ENST00000412899.5:c.-161+337C>T | ENSP00000413470.1:n.-161+337C>T | |
| ENST00000442250.5:c.19C>T | ENSP00000406694.1:p.Leu7= | |
| ENST00000458358.5:c.19C>T | ENSP00000394169.1:p.Leu7= | |
| NM_000210.2:c.19C>T | NP_000201.2:p.Leu7= | |
| NM_000210.3:c.19C>T | NP_000201.2:p.Leu7= | |
| NM_001079818.1:c.19C>T | NP_001073286.1:p.Leu7= | |
| NM_001079818.2:c.19C>T | NP_001073286.1:p.Leu7= | |
| NM_001316306.1:c.-161+337C>T | NP_001303235.1:n.-161+337C>T | |
| XM_006712510.1:c.19C>T | XP_006712573.1:p.Leu7= | |
| XM_006712511.1:c.19C>T | XP_006712574.1:p.Leu7= | |
| NM_001365529.1:c.19C>T | NP_001352458.1:p.Leu7= | |
| NM_001365530.1:c.19C>T | NP_001352459.1:p.Leu7= | |
| XM_017004005.1:c.-161+337C>T | XP_016859494.1:n.-161+337C>T | |
| XM_017004006.1:c.-161+337C>T | XP_016859495.1:n.-161+337C>T | |
| XM_017004007.1:c.-161+337C>T | XP_016859496.1:n.-161+337C>T | |
| XM_017004008.1:c.-161+337C>T | XP_016859497.1:n.-161+337C>T | |
| NM_001079818.3:c.19C>T | NP_001073286.1:p.Leu7= | |
| NM_000210.4:c.19C>T MANE Select | NP_000201.2:p.Leu7= | |
| NM_001316306.2:c.-161+337C>T | NP_001303235.1:n.-161+337C>T | |
| NM_001365529.2:c.19C>T | NP_001352458.1:p.Leu7= | |
| NM_001365530.2:c.19C>T | NP_001352459.1:p.Leu7= | |
| NM_001394928.1:c.19C>T MANE Plus Clinical | NP_001381857.1:p.Leu7= |