Linked Data
ClinVar Variation Id:
2147496
ClinVar RCV Id:
RCV003077220
dbSNP Id:
rs969444218
gnomAD v4:
10-89014243-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.89014243C>T , CM000672.2:g.89014243C>T | GRCh38 |
| NC_000010.10:g.90774000C>T , CM000672.1:g.90774000C>T | GRCh37 |
| NC_000010.9:g.90763980C>T | NCBI36 |
| NG_009089.2:g.28713C>T , LRG_134:g.28713C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313771.10:n.1110C>T | ||
| ENST00000355740.8:c.*124C>T | ENSP00000347979.3:n.*124C>T | |
| ENST00000357339.7:c.738C>T | ENSP00000349896.2:p.Val246= | |
| ENST00000371857.8:n.2346C>T | ||
| ENST00000460510.6:c.84C>T | ENSP00000512812.1:p.Val28= | |
| ENST00000466081.6:n.2450C>T | ||
| ENST00000477270.6:c.846C>T | ENSP00000512813.1:p.Val282= | |
| ENST00000479522.6:c.*230C>T | ENSP00000424113.1:n.*230C>T | |
| ENST00000484444.6:c.*242C>T | ENSP00000420975.1:n.*242C>T | |
| ENST00000488877.6:c.692C>T | ENSP00000425159.1:n.692C>T | |
| ENST00000492756.7:c.*230C>T | ENSP00000422453.1:n.*230C>T | |
| ENST00000494799.6:c.84C>T | ENSP00000512834.1:p.Val28= | |
| ENST00000562983.3:c.84C>T | ENSP00000512845.1:p.Val28= | |
| ENST00000612663.6:c.*203C>T | ENSP00000477997.3:n.*203C>T | |
| ENST00000640140.2:n.946C>T | ||
| ENST00000640250.2:n.300C>T | ||
| ENST00000640681.2:n.905C>T | ||
| ENST00000696723.1:n.4434C>T | ||
| ENST00000696741.1:n.2439C>T | ||
| ENST00000696742.1:n.2166C>T | ||
| ENST00000696743.1:n.3569C>T | ||
| ENST00000696744.1:n.840C>T | ||
| ENST00000696767.1:n.1135C>T | ||
| ENST00000696768.1:c.*124C>T | ENSP00000512859.1:n.*124C>T | |
| ENST00000696769.1:n.2490C>T | ||
| ENST00000696771.1:c.84C>T | ENSP00000512860.1:p.Val28= | |
| ENST00000696772.1:n.2404C>T | ||
| ENST00000696773.1:n.2143C>T | ||
| ENST00000696774.1:n.5911C>T | ||
| ENST00000696776.1:c.894C>T | ENSP00000512861.1:p.Val298= | |
| ENST00000696777.1:n.2209C>T | ||
| ENST00000696778.1:n.1237C>T | ||
| ENST00000696779.1:c.408C>T | ENSP00000512862.1:p.Val136= | |
| ENST00000696780.1:c.831C>T | ENSP00000512863.1:p.Val277= | |
| ENST00000696781.1:c.546C>T | ENSP00000512864.1:p.Val182= | |
| ENST00000696782.1:c.*203C>T | ENSP00000512865.1:n.*203C>T | |
| ENST00000696783.1:n.2669C>T | ||
| ENST00000696992.1:n.1918C>T | ||
| ENST00000696995.1:n.4330C>T | ||
| ENST00000696996.1:n.2243C>T | ||
| ENST00000696997.1:c.*431C>T | ENSP00000513028.1:n.*431C>T | |
| ENST00000696998.1:n.2055C>T | ||
| ENST00000696999.1:c.84C>T | ENSP00000513029.1:p.Val28= | |
| ENST00000697035.1:c.*134C>T | ENSP00000513059.1:n.*134C>T | |
| ENST00000697036.1:c.*217C>T | ENSP00000513060.1:n.*217C>T | |
| ENST00000697037.1:n.836C>T | ||
| ENST00000697093.1:n.3037C>T | ||
| ENST00000697094.1:n.3384C>T | ||
| ENST00000697095.1:c.*2002C>T | ENSP00000513104.1:n.*2002C>T | |
| ENST00000697096.1:n.1934C>T | ||
| ENST00000697097.1:c.84C>T | ENSP00000513105.1:p.Val28= | |
| ENST00000562983.2:n.987C>T | ||
| ENST00000690268.1:c.882C>T | ENSP00000509810.1:p.Val294= | |
| ENST00000355740.7:c.*127C>T | ENSP00000347979.3:n.*127C>T | |
| ENST00000612663.5:c.*203C>T | ENSP00000477997.3:n.*203C>T | |
| ENST00000640140.1:n.973C>T | ||
| ENST00000640250.1:n.300C>T | ||
| ENST00000640681.1:n.922C>T | ||
| ENST00000652046.1:c.801C>T MANE Select | ENSP00000498466.1:p.Val267= | |
| ENST00000352159.8:c.*118C>T | ENSP00000345601.4:n.*118C>T | |
| ENST00000355279.2:c.776C>T | ENSP00000347426.2:n.776C>T | |
| ENST00000355740.6:c.801C>T | ENSP00000347979.2:p.Val267= | |
| ENST00000357339.6:c.738C>T | ENSP00000349896.2:p.Val246= | |
| ENST00000479522.5:c.*230C>T | ENSP00000424113.1:n.*230C>T | |
| ENST00000484444.5:c.*242C>T | ENSP00000420975.1:n.*242C>T | |
| ENST00000488877.5:c.*242C>T | ENSP00000425159.1:n.*242C>T | |
| ENST00000492756.5:c.629C>T | ENSP00000422453.1:n.629C>T | |
| ENST00000494410.5:c.*159C>T | ENSP00000423755.1:n.*159C>T | |
| ENST00000612663.4:c.*148C>T | ENSP00000477997.2:n.*148C>T | |
| NM_000043.4:c.801C>T , LRG_134t1:c.801C>T | NP_000034.1:p.Val267= | |
| NM_152871.2:c.738C>T | NP_690610.1:p.Val246= | |
| NM_152872.2:c.*113C>T | NP_690611.1:n.*113C>T | |
| NR_028033.2:n.975C>T | ||
| NR_028034.2:n.837C>T | ||
| NR_028035.2:n.900C>T | ||
| NR_028036.2:n.1038C>T | ||
| XM_006717819.2:c.882C>T | XP_006717882.1:p.Val294= | |
| XM_011539764.1:c.963C>T | XP_011538066.1:p.Val321= | |
| XM_011539765.1:c.900C>T | XP_011538067.1:p.Val300= | |
| XM_011539766.1:c.882C>T | XP_011538068.1:p.Val294= | |
| XM_011539767.1:c.846C>T | XP_011538069.1:p.Val282= | |
| XR_945732.1:n.869C>T | ||
| XR_945733.1:n.806C>T | ||
| NM_000043.5:c.801C>T | NP_000034.1:p.Val267= | |
| NM_001320619.1:c.*124C>T | NP_001307548.1:n.*124C>T | |
| NM_152871.3:c.738C>T | NP_690610.1:p.Val246= | |
| NM_152872.3:c.*113C>T | NP_690611.1:n.*113C>T | |
| NR_028033.3:n.947C>T | ||
| NR_028034.3:n.809C>T | ||
| NR_028035.3:n.872C>T | ||
| NR_028036.3:n.1010C>T | ||
| NR_135313.1:n.927C>T | ||
| NR_135314.1:n.1110C>T | ||
| NR_135315.1:n.863C>T | ||
| XM_006717819.3:c.882C>T | XP_006717882.1:p.Val294= | |
| XM_011539764.2:c.963C>T | XP_011538066.1:p.Val321= | |
| XM_011539765.2:c.900C>T | XP_011538067.1:p.Val300= | |
| XM_011539766.2:c.882C>T | XP_011538068.1:p.Val294= | |
| XM_011539767.3:c.846C>T | XP_011538069.1:p.Val282= | |
| XR_945732.3:n.869C>T | ||
| XR_945733.2:n.806C>T | ||
| NM_000043.6:c.801C>T MANE Select | NP_000034.1:p.Val267= | |
| NM_001320619.2:c.*124C>T | NP_001307548.1:n.*124C>T | |
| NM_152871.4:c.738C>T | NP_690610.1:p.Val246= | |
| NM_152872.4:c.*113C>T | NP_690611.1:n.*113C>T | |
| NR_028033.4:n.708C>T | ||
| NR_028034.4:n.570C>T | ||
| NR_028035.4:n.633C>T | ||
| NR_028036.4:n.771C>T | ||
| NR_135313.2:n.688C>T | ||
| NR_135314.2:n.967C>T | ||
| NR_135315.2:n.720C>T |