Linked Data
ClinVar Variation Id:
16508
ClinVar RCV Id:
RCV000017972
dbSNP Id:
rs606231364
PubMed:
PMID:10090885
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.89003071G>A , CM000672.2:g.89003071G>A | GRCh38 |
| NC_000010.10:g.90762828G>A , CM000672.1:g.90762828G>A | GRCh37 |
| NC_000010.9:g.90752808G>A | NCBI36 |
| NG_009089.2:g.17541G>A , LRG_134:g.17541G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313771.10:n.382G>A | ||
| ENST00000355740.8:c.73G>A | ENSP00000347979.3:p.Ala25Thr | |
| ENST00000357339.7:c.73G>A | ENSP00000349896.2:p.Ala25Thr | |
| ENST00000371857.8:n.283G>A | ||
| ENST00000460510.6:c.-645G>A | ENSP00000512812.1:n.-645G>A | |
| ENST00000466081.6:n.242G>A | ||
| ENST00000477270.6:c.118G>A | ENSP00000512813.1:p.Ala40Thr | |
| ENST00000479522.6:c.73G>A | ENSP00000424113.1:p.Ala25Thr | |
| ENST00000484444.6:c.73G>A | ENSP00000420975.1:p.Ala25Thr | |
| ENST00000488877.6:c.73G>A | ENSP00000425159.1:p.Ala25Thr | |
| ENST00000492756.7:c.73G>A | ENSP00000422453.1:p.Ala25Thr | |
| ENST00000494799.6:c.-398G>A | ENSP00000512834.1:n.-398G>A | |
| ENST00000562983.3:c.-645G>A | ENSP00000512845.1:n.-645G>A | |
| ENST00000612663.6:c.73G>A | ENSP00000477997.3:p.Ala25Thr | |
| ENST00000640140.2:n.218G>A | ||
| ENST00000640681.2:n.177G>A | ||
| ENST00000696723.1:n.3706G>A | ||
| ENST00000696741.1:n.376G>A | ||
| ENST00000696742.1:n.255G>A | ||
| ENST00000696743.1:n.245G>A | ||
| ENST00000696744.1:n.112G>A | ||
| ENST00000696767.1:n.255G>A | ||
| ENST00000696768.1:c.73G>A | ENSP00000512859.1:p.Ala25Thr | |
| ENST00000696769.1:n.427G>A | ||
| ENST00000696770.1:n.256G>A | ||
| ENST00000696771.1:c.-582G>A | ENSP00000512860.1:n.-582G>A | |
| ENST00000696772.1:n.239G>A | ||
| ENST00000696773.1:n.232G>A | ||
| ENST00000696774.1:n.295G>A | ||
| ENST00000696775.1:n.348G>A | ||
| ENST00000696776.1:c.166G>A | ENSP00000512861.1:p.Ala56Thr | |
| ENST00000696777.1:n.255G>A | ||
| ENST00000696778.1:n.255G>A | ||
| ENST00000696779.1:c.73G>A | ENSP00000512862.1:p.Ala25Thr | |
| ENST00000696780.1:c.166G>A | ENSP00000512863.1:p.Ala56Thr | |
| ENST00000696781.1:c.73G>A | ENSP00000512864.1:p.Ala25Thr | |
| ENST00000696782.1:c.73G>A | ENSP00000512865.1:p.Ala25Thr | |
| ENST00000696992.1:n.1190G>A | ||
| ENST00000696994.1:n.255G>A | ||
| ENST00000696995.1:n.255G>A | ||
| ENST00000696996.1:n.254G>A | ||
| ENST00000696997.1:c.73G>A | ENSP00000513028.1:p.Ala25Thr | |
| ENST00000696998.1:n.239G>A | ||
| ENST00000696999.1:c.-473G>A | ENSP00000513029.1:n.-473G>A | |
| ENST00000697035.1:c.73G>A | ENSP00000513059.1:p.Ala25Thr | |
| ENST00000697036.1:c.73G>A | ENSP00000513060.1:p.Ala25Thr | |
| ENST00000697037.1:n.108G>A | ||
| ENST00000697093.1:n.297G>A | ||
| ENST00000697094.1:n.212G>A | ||
| ENST00000697095.1:c.73G>A | ENSP00000513104.1:p.Ala25Thr | |
| ENST00000697096.1:n.129G>A | ||
| ENST00000697097.1:c.-645G>A | ENSP00000513105.1:n.-645G>A | |
| ENST00000562983.2:n.259G>A | ||
| ENST00000690268.1:c.154G>A | ENSP00000509810.1:p.Ala52Thr | |
| ENST00000355740.7:c.73G>A | ENSP00000347979.3:p.Ala25Thr | |
| ENST00000612663.5:c.73G>A | ENSP00000477997.3:p.Ala25Thr | |
| ENST00000640140.1:n.245G>A | ||
| ENST00000640681.1:n.194G>A | ||
| ENST00000652046.1:c.73G>A MANE Select | ENSP00000498466.1:p.Ala25Thr | |
| ENST00000313771.9:n.382G>A | ||
| ENST00000352159.8:c.73G>A | ENSP00000345601.4:p.Ala25Thr | |
| ENST00000355279.2:c.73G>A | ENSP00000347426.2:p.Ala25Thr | |
| ENST00000355740.6:c.73G>A | ENSP00000347979.2:p.Ala25Thr | |
| ENST00000357339.6:c.73G>A | ENSP00000349896.2:p.Ala25Thr | |
| ENST00000371857.7:n.239G>A | ||
| ENST00000460510.5:n.440G>A | ||
| ENST00000466081.5:n.242G>A | ||
| ENST00000477270.5:n.236G>A | ||
| ENST00000479522.5:c.73G>A | ENSP00000424113.1:p.Ala25Thr | |
| ENST00000484444.5:c.73G>A | ENSP00000420975.1:p.Ala25Thr | |
| ENST00000487314.1:n.222G>A | ||
| ENST00000488877.5:c.73G>A | ENSP00000425159.1:p.Ala25Thr | |
| ENST00000492756.5:c.73G>A | ENSP00000422453.1:p.Ala25Thr | |
| ENST00000494410.5:c.73G>A | ENSP00000423755.1:p.Ala25Thr | |
| ENST00000494799.5:n.227G>A | ||
| ENST00000612663.4:c.73G>A | ENSP00000477997.2:p.Ala25Thr | |
| ENST00000615406.4:c.73G>A | ENSP00000484575.1:p.Ala25Thr | |
| ENST00000626542.2:c.73G>A | ENSP00000485876.1:p.Ala25Thr | |
| NM_000043.4:c.73G>A , LRG_134t1:c.73G>A | NP_000034.1:p.Ala25Thr | |
| NM_152871.2:c.73G>A | NP_690610.1:p.Ala25Thr | |
| NM_152872.2:c.73G>A | NP_690611.1:p.Ala25Thr | |
| NR_028033.2:n.419G>A | ||
| NR_028034.2:n.419G>A | ||
| NR_028035.2:n.419G>A | ||
| NR_028036.2:n.419G>A | ||
| XM_006717819.2:c.154G>A | XP_006717882.1:p.Ala52Thr | |
| XM_011539764.1:c.235G>A | XP_011538066.1:p.Ala79Thr | |
| XM_011539765.1:c.235G>A | XP_011538067.1:p.Ala79Thr | |
| XM_011539766.1:c.154G>A | XP_011538068.1:p.Ala52Thr | |
| XM_011539767.1:c.118G>A | XP_011538069.1:p.Ala40Thr | |
| XR_945732.1:n.250G>A | ||
| XR_945733.1:n.250G>A | ||
| NM_000043.5:c.73G>A | NP_000034.1:p.Ala25Thr | |
| NM_001320619.1:c.73G>A | NP_001307548.1:p.Ala25Thr | |
| NM_152871.3:c.73G>A | NP_690610.1:p.Ala25Thr | |
| NM_152872.3:c.73G>A | NP_690611.1:p.Ala25Thr | |
| NR_028033.3:n.391G>A | ||
| NR_028034.3:n.391G>A | ||
| NR_028035.3:n.391G>A | ||
| NR_028036.3:n.391G>A | ||
| NR_135313.1:n.391G>A | ||
| NR_135314.1:n.382G>A | ||
| NR_135315.1:n.382G>A | ||
| XM_006717819.3:c.154G>A | XP_006717882.1:p.Ala52Thr | |
| XM_011539764.2:c.235G>A | XP_011538066.1:p.Ala79Thr | |
| XM_011539765.2:c.235G>A | XP_011538067.1:p.Ala79Thr | |
| XM_011539766.2:c.154G>A | XP_011538068.1:p.Ala52Thr | |
| XM_011539767.3:c.118G>A | XP_011538069.1:p.Ala40Thr | |
| XR_945732.3:n.250G>A | ||
| XR_945733.2:n.250G>A | ||
| NM_000043.6:c.73G>A MANE Select | NP_000034.1:p.Ala25Thr | |
| NM_001320619.2:c.73G>A | NP_001307548.1:p.Ala25Thr | |
| NM_152871.4:c.73G>A | NP_690610.1:p.Ala25Thr | |
| NM_152872.4:c.73G>A | NP_690611.1:p.Ala25Thr | |
| NR_028033.4:n.152G>A | ||
| NR_028034.4:n.152G>A | ||
| NR_028035.4:n.152G>A | ||
| NR_028036.4:n.152G>A | ||
| NR_135313.2:n.152G>A | ||
| NR_135314.2:n.239G>A | ||
| NR_135315.2:n.239G>A |