Linked Data
dbSNP Id:
rs1196533016
gnomAD v2:
10-90774325-G-A
gnomAD v3:
10-89014568-G-A
gnomAD v4:
10-89014568-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.89014568G>A , CM000672.2:g.89014568G>A | GRCh38 |
| NC_000010.10:g.90774325G>A , CM000672.1:g.90774325G>A | GRCh37 |
| NC_000010.9:g.90764305G>A | NCBI36 |
| NG_009089.2:g.29038G>A , LRG_134:g.29038G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313771.10:n.1435G>A | ||
| ENST00000355740.8:c.*449G>A | ENSP00000347979.3:n.*449G>A | |
| ENST00000357339.7:c.*118G>A | ENSP00000349896.2:n.*118G>A | |
| ENST00000371857.8:n.2671G>A | ||
| ENST00000460510.6:c.*118G>A | ENSP00000512812.1:n.*118G>A | |
| ENST00000466081.6:n.2775G>A | ||
| ENST00000477270.6:c.*118G>A | ENSP00000512813.1:n.*118G>A | |
| ENST00000479522.6:c.*555G>A | ENSP00000424113.1:n.*555G>A | |
| ENST00000484444.6:c.*567G>A | ENSP00000420975.1:n.*567G>A | |
| ENST00000488877.6:c.1017G>A | ENSP00000425159.1:n.1017G>A | |
| ENST00000492756.7:c.*555G>A | ENSP00000422453.1:n.*555G>A | |
| ENST00000494799.6:c.*118G>A | ENSP00000512834.1:n.*118G>A | |
| ENST00000562983.3:c.*118G>A | ENSP00000512845.1:n.*118G>A | |
| ENST00000612663.6:c.*528G>A | ENSP00000477997.3:n.*528G>A | |
| ENST00000640140.2:n.1271G>A | ||
| ENST00000640250.2:n.625G>A | ||
| ENST00000640681.2:n.1230G>A | ||
| ENST00000696723.1:n.4759G>A | ||
| ENST00000696741.1:n.2764G>A | ||
| ENST00000696742.1:n.2491G>A | ||
| ENST00000696743.1:n.3894G>A | ||
| ENST00000696744.1:n.1165G>A | ||
| ENST00000696767.1:n.1460G>A | ||
| ENST00000696768.1:c.*449G>A | ENSP00000512859.1:n.*449G>A | |
| ENST00000696771.1:c.*118G>A | ENSP00000512860.1:n.*118G>A | |
| ENST00000696772.1:n.2729G>A | ||
| ENST00000696773.1:n.2468G>A | ||
| ENST00000696774.1:n.6236G>A | ||
| ENST00000696776.1:c.*118G>A | ENSP00000512861.1:n.*118G>A | |
| ENST00000696777.1:n.2534G>A | ||
| ENST00000696778.1:n.1562G>A | ||
| ENST00000696779.1:c.*118G>A | ENSP00000512862.1:n.*118G>A | |
| ENST00000696780.1:c.*118G>A | ENSP00000512863.1:n.*118G>A | |
| ENST00000696781.1:c.*118G>A | ENSP00000512864.1:n.*118G>A | |
| ENST00000696782.1:c.*528G>A | ENSP00000512865.1:n.*528G>A | |
| ENST00000696783.1:n.2994G>A | ||
| ENST00000696992.1:n.2243G>A | ||
| ENST00000696995.1:n.4655G>A | ||
| ENST00000696996.1:n.2568G>A | ||
| ENST00000696997.1:c.*756G>A | ENSP00000513028.1:n.*756G>A | |
| ENST00000696998.1:n.2380G>A | ||
| ENST00000696999.1:c.*118G>A | ENSP00000513029.1:n.*118G>A | |
| ENST00000697036.1:c.*542G>A | ENSP00000513060.1:n.*542G>A | |
| ENST00000697037.1:n.1161G>A | ||
| ENST00000697093.1:n.3362G>A | ||
| ENST00000697094.1:n.3709G>A | ||
| ENST00000697095.1:c.*2327G>A | ENSP00000513104.1:n.*2327G>A | |
| ENST00000697096.1:n.2259G>A | ||
| ENST00000697097.1:c.*118G>A | ENSP00000513105.1:n.*118G>A | |
| ENST00000562983.2:n.1312G>A | ||
| ENST00000690268.1:c.*118G>A | ENSP00000509810.1:n.*118G>A | |
| ENST00000355740.7:c.*452G>A | ENSP00000347979.3:n.*452G>A | |
| ENST00000640140.1:n.1298G>A | ||
| ENST00000640250.1:n.625G>A | ||
| ENST00000640681.1:n.1247G>A | ||
| ENST00000652046.1:c.*118G>A MANE Select | ENSP00000498466.1:n.*118G>A | |
| ENST00000352159.8:c.*443G>A | ENSP00000345601.4:n.*443G>A | |
| ENST00000355740.6:c.*118G>A | ENSP00000347979.2:n.*118G>A | |
| ENST00000479522.5:c.*555G>A | ENSP00000424113.1:n.*555G>A | |
| ENST00000484444.5:c.*567G>A | ENSP00000420975.1:n.*567G>A | |
| ENST00000494410.5:c.*484G>A | ENSP00000423755.1:n.*484G>A | |
| NM_000043.4:c.*118G>A , LRG_134t1:c.*118G>A | NP_000034.1:n.*118G>A | |
| NM_152871.2:c.*118G>A | NP_690610.1:n.*118G>A | |
| NM_152872.2:c.*438G>A | NP_690611.1:n.*438G>A | |
| NR_028033.2:n.1300G>A | ||
| NR_028034.2:n.1162G>A | ||
| NR_028035.2:n.1225G>A | ||
| NR_028036.2:n.1363G>A | ||
| XM_006717819.2:c.*118G>A | XP_006717882.1:n.*118G>A | |
| XM_011539764.1:c.*118G>A | XP_011538066.1:n.*118G>A | |
| XM_011539765.1:c.*118G>A | XP_011538067.1:n.*118G>A | |
| XM_011539766.1:c.*118G>A | XP_011538068.1:n.*118G>A | |
| XM_011539767.1:c.*118G>A | XP_011538069.1:n.*118G>A | |
| NM_000043.5:c.*118G>A | NP_000034.1:n.*118G>A | |
| NM_001320619.1:c.*449G>A | NP_001307548.1:n.*449G>A | |
| NM_152871.3:c.*118G>A | NP_690610.1:n.*118G>A | |
| NM_152872.3:c.*438G>A | NP_690611.1:n.*438G>A | |
| NR_028033.3:n.1272G>A | ||
| NR_028034.3:n.1134G>A | ||
| NR_028035.3:n.1197G>A | ||
| NR_028036.3:n.1335G>A | ||
| NR_135313.1:n.1252G>A | ||
| NR_135314.1:n.1435G>A | ||
| NR_135315.1:n.1188G>A | ||
| XM_006717819.3:c.*118G>A | XP_006717882.1:n.*118G>A | |
| XM_011539764.2:c.*118G>A | XP_011538066.1:n.*118G>A | |
| XM_011539765.2:c.*118G>A | XP_011538067.1:n.*118G>A | |
| XM_011539766.2:c.*118G>A | XP_011538068.1:n.*118G>A | |
| XM_011539767.3:c.*118G>A | XP_011538069.1:n.*118G>A | |
| XR_945732.3:n.1194G>A | ||
| XR_945733.2:n.1131G>A | ||
| NM_000043.6:c.*118G>A MANE Select | NP_000034.1:n.*118G>A | |
| NM_001320619.2:c.*449G>A | NP_001307548.1:n.*449G>A | |
| NM_152871.4:c.*118G>A | NP_690610.1:n.*118G>A | |
| NM_152872.4:c.*438G>A | NP_690611.1:n.*438G>A | |
| NR_028033.4:n.1033G>A | ||
| NR_028034.4:n.895G>A | ||
| NR_028035.4:n.958G>A | ||
| NR_028036.4:n.1096G>A | ||
| NR_135313.2:n.1013G>A | ||
| NR_135314.2:n.1292G>A | ||
| NR_135315.2:n.1045G>A |