Linked Data
ClinVar Variation Id:
301534
dbSNP Id:
rs9658774
ExAC:
10:90774349 A / G
gnomAD v2:
10-90774349-A-G
gnomAD v3:
10-89014592-A-G
gnomAD v4:
10-89014592-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.89014592A>G , CM000672.2:g.89014592A>G | GRCh38 |
| NC_000010.10:g.90774349A>G , CM000672.1:g.90774349A>G | GRCh37 |
| NC_000010.9:g.90764329A>G | NCBI36 |
| NG_009089.2:g.29062A>G , LRG_134:g.29062A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313771.10:n.1459A>G | ||
| ENST00000355740.8:c.*473A>G | ENSP00000347979.3:n.*473A>G | |
| ENST00000357339.7:c.*142A>G | ENSP00000349896.2:n.*142A>G | |
| ENST00000371857.8:n.2695A>G | ||
| ENST00000460510.6:c.*142A>G | ENSP00000512812.1:n.*142A>G | |
| ENST00000466081.6:n.2799A>G | ||
| ENST00000477270.6:c.*142A>G | ENSP00000512813.1:n.*142A>G | |
| ENST00000488877.6:c.1041A>G | ENSP00000425159.1:n.1041A>G | |
| ENST00000492756.7:c.*579A>G | ENSP00000422453.1:n.*579A>G | |
| ENST00000494799.6:c.*142A>G | ENSP00000512834.1:n.*142A>G | |
| ENST00000562983.3:c.*142A>G | ENSP00000512845.1:n.*142A>G | |
| ENST00000612663.6:c.*552A>G | ENSP00000477997.3:n.*552A>G | |
| ENST00000640140.2:n.1295A>G | ||
| ENST00000640250.2:n.649A>G | ||
| ENST00000640681.2:n.1254A>G | ||
| ENST00000696723.1:n.4783A>G | ||
| ENST00000696741.1:n.2788A>G | ||
| ENST00000696742.1:n.2515A>G | ||
| ENST00000696743.1:n.3918A>G | ||
| ENST00000696744.1:n.1189A>G | ||
| ENST00000696767.1:n.1484A>G | ||
| ENST00000696768.1:c.*473A>G | ENSP00000512859.1:n.*473A>G | |
| ENST00000696771.1:c.*142A>G | ENSP00000512860.1:n.*142A>G | |
| ENST00000696772.1:n.2753A>G | ||
| ENST00000696773.1:n.2492A>G | ||
| ENST00000696774.1:n.6260A>G | ||
| ENST00000696776.1:c.*142A>G | ENSP00000512861.1:n.*142A>G | |
| ENST00000696777.1:n.2558A>G | ||
| ENST00000696778.1:n.1586A>G | ||
| ENST00000696779.1:c.*142A>G | ENSP00000512862.1:n.*142A>G | |
| ENST00000696780.1:c.*142A>G | ENSP00000512863.1:n.*142A>G | |
| ENST00000696781.1:c.*142A>G | ENSP00000512864.1:n.*142A>G | |
| ENST00000696782.1:c.*552A>G | ENSP00000512865.1:n.*552A>G | |
| ENST00000696783.1:n.3018A>G | ||
| ENST00000696992.1:n.2267A>G | ||
| ENST00000696995.1:n.4679A>G | ||
| ENST00000696996.1:n.2592A>G | ||
| ENST00000696997.1:c.*780A>G | ENSP00000513028.1:n.*780A>G | |
| ENST00000696998.1:n.2404A>G | ||
| ENST00000696999.1:c.*142A>G | ENSP00000513029.1:n.*142A>G | |
| ENST00000697036.1:c.*566A>G | ENSP00000513060.1:n.*566A>G | |
| ENST00000697037.1:n.1185A>G | ||
| ENST00000697093.1:n.3386A>G | ||
| ENST00000697094.1:n.3733A>G | ||
| ENST00000697095.1:c.*2351A>G | ENSP00000513104.1:n.*2351A>G | |
| ENST00000697096.1:n.2283A>G | ||
| ENST00000697097.1:c.*142A>G | ENSP00000513105.1:n.*142A>G | |
| ENST00000562983.2:n.1336A>G | ||
| ENST00000690268.1:c.*142A>G | ENSP00000509810.1:n.*142A>G | |
| ENST00000355740.7:c.*476A>G | ENSP00000347979.3:n.*476A>G | |
| ENST00000640140.1:n.1322A>G | ||
| ENST00000640250.1:n.649A>G | ||
| ENST00000640681.1:n.1271A>G | ||
| ENST00000652046.1:c.*142A>G MANE Select | ENSP00000498466.1:n.*142A>G | |
| ENST00000352159.8:c.*467A>G | ENSP00000345601.4:n.*467A>G | |
| ENST00000355740.6:c.*142A>G | ENSP00000347979.2:n.*142A>G | |
| ENST00000484444.5:c.*591A>G | ENSP00000420975.1:n.*591A>G | |
| NM_000043.4:c.*142A>G , LRG_134t1:c.*142A>G | NP_000034.1:n.*142A>G | |
| NM_152871.2:c.*142A>G | NP_690610.1:n.*142A>G | |
| NM_152872.2:c.*462A>G | NP_690611.1:n.*462A>G | |
| NR_028033.2:n.1324A>G | ||
| NR_028034.2:n.1186A>G | ||
| NR_028035.2:n.1249A>G | ||
| NR_028036.2:n.1387A>G | ||
| XM_006717819.2:c.*142A>G | XP_006717882.1:n.*142A>G | |
| XM_011539764.1:c.*142A>G | XP_011538066.1:n.*142A>G | |
| XM_011539765.1:c.*142A>G | XP_011538067.1:n.*142A>G | |
| XM_011539766.1:c.*142A>G | XP_011538068.1:n.*142A>G | |
| XM_011539767.1:c.*142A>G | XP_011538069.1:n.*142A>G | |
| NM_000043.5:c.*142A>G | NP_000034.1:n.*142A>G | |
| NM_001320619.1:c.*473A>G | NP_001307548.1:n.*473A>G | |
| NM_152871.3:c.*142A>G | NP_690610.1:n.*142A>G | |
| NM_152872.3:c.*462A>G | NP_690611.1:n.*462A>G | |
| NR_028033.3:n.1296A>G | ||
| NR_028034.3:n.1158A>G | ||
| NR_028035.3:n.1221A>G | ||
| NR_028036.3:n.1359A>G | ||
| NR_135313.1:n.1276A>G | ||
| NR_135314.1:n.1459A>G | ||
| NR_135315.1:n.1212A>G | ||
| XM_006717819.3:c.*142A>G | XP_006717882.1:n.*142A>G | |
| XM_011539764.2:c.*142A>G | XP_011538066.1:n.*142A>G | |
| XM_011539765.2:c.*142A>G | XP_011538067.1:n.*142A>G | |
| XM_011539766.2:c.*142A>G | XP_011538068.1:n.*142A>G | |
| XM_011539767.3:c.*142A>G | XP_011538069.1:n.*142A>G | |
| XR_945732.3:n.1218A>G | ||
| XR_945733.2:n.1155A>G | ||
| NM_000043.6:c.*142A>G MANE Select | NP_000034.1:n.*142A>G | |
| NM_001320619.2:c.*473A>G | NP_001307548.1:n.*473A>G | |
| NM_152871.4:c.*142A>G | NP_690610.1:n.*142A>G | |
| NM_152872.4:c.*462A>G | NP_690611.1:n.*462A>G | |
| NR_028033.4:n.1057A>G | ||
| NR_028034.4:n.919A>G | ||
| NR_028035.4:n.982A>G | ||
| NR_028036.4:n.1120A>G | ||
| NR_135313.2:n.1037A>G | ||
| NR_135314.2:n.1316A>G | ||
| NR_135315.2:n.1069A>G |