Linked Data
dbSNP Id:
rs756682092
ExAC:
10:90774302 G / C
gnomAD v2:
10-90774302-G-C
gnomAD v4:
10-89014545-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.89014545G>C , CM000672.2:g.89014545G>C | GRCh38 |
| NC_000010.10:g.90774302G>C , CM000672.1:g.90774302G>C | GRCh37 |
| NC_000010.9:g.90764282G>C | NCBI36 |
| NG_009089.2:g.29015G>C , LRG_134:g.29015G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313771.10:n.1412G>C | ||
| ENST00000355740.8:c.*426G>C | ENSP00000347979.3:n.*426G>C | |
| ENST00000357339.7:c.*95G>C | ENSP00000349896.2:n.*95G>C | |
| ENST00000371857.8:n.2648G>C | ||
| ENST00000460510.6:c.*95G>C | ENSP00000512812.1:n.*95G>C | |
| ENST00000466081.6:n.2752G>C | ||
| ENST00000477270.6:c.*95G>C | ENSP00000512813.1:n.*95G>C | |
| ENST00000479522.6:c.*532G>C | ENSP00000424113.1:n.*532G>C | |
| ENST00000484444.6:c.*544G>C | ENSP00000420975.1:n.*544G>C | |
| ENST00000488877.6:c.994G>C | ENSP00000425159.1:n.994G>C | |
| ENST00000492756.7:c.*532G>C | ENSP00000422453.1:n.*532G>C | |
| ENST00000494799.6:c.*95G>C | ENSP00000512834.1:n.*95G>C | |
| ENST00000562983.3:c.*95G>C | ENSP00000512845.1:n.*95G>C | |
| ENST00000612663.6:c.*505G>C | ENSP00000477997.3:n.*505G>C | |
| ENST00000640140.2:n.1248G>C | ||
| ENST00000640250.2:n.602G>C | ||
| ENST00000640681.2:n.1207G>C | ||
| ENST00000696723.1:n.4736G>C | ||
| ENST00000696741.1:n.2741G>C | ||
| ENST00000696742.1:n.2468G>C | ||
| ENST00000696743.1:n.3871G>C | ||
| ENST00000696744.1:n.1142G>C | ||
| ENST00000696767.1:n.1437G>C | ||
| ENST00000696768.1:c.*426G>C | ENSP00000512859.1:n.*426G>C | |
| ENST00000696769.1:n.2792G>C | ||
| ENST00000696771.1:c.*95G>C | ENSP00000512860.1:n.*95G>C | |
| ENST00000696772.1:n.2706G>C | ||
| ENST00000696773.1:n.2445G>C | ||
| ENST00000696774.1:n.6213G>C | ||
| ENST00000696776.1:c.*95G>C | ENSP00000512861.1:n.*95G>C | |
| ENST00000696777.1:n.2511G>C | ||
| ENST00000696778.1:n.1539G>C | ||
| ENST00000696779.1:c.*95G>C | ENSP00000512862.1:n.*95G>C | |
| ENST00000696780.1:c.*95G>C | ENSP00000512863.1:n.*95G>C | |
| ENST00000696781.1:c.*95G>C | ENSP00000512864.1:n.*95G>C | |
| ENST00000696782.1:c.*505G>C | ENSP00000512865.1:n.*505G>C | |
| ENST00000696783.1:n.2971G>C | ||
| ENST00000696992.1:n.2220G>C | ||
| ENST00000696995.1:n.4632G>C | ||
| ENST00000696996.1:n.2545G>C | ||
| ENST00000696997.1:c.*733G>C | ENSP00000513028.1:n.*733G>C | |
| ENST00000696998.1:n.2357G>C | ||
| ENST00000696999.1:c.*95G>C | ENSP00000513029.1:n.*95G>C | |
| ENST00000697036.1:c.*519G>C | ENSP00000513060.1:n.*519G>C | |
| ENST00000697037.1:n.1138G>C | ||
| ENST00000697093.1:n.3339G>C | ||
| ENST00000697094.1:n.3686G>C | ||
| ENST00000697095.1:c.*2304G>C | ENSP00000513104.1:n.*2304G>C | |
| ENST00000697096.1:n.2236G>C | ||
| ENST00000697097.1:c.*95G>C | ENSP00000513105.1:n.*95G>C | |
| ENST00000562983.2:n.1289G>C | ||
| ENST00000690268.1:c.*95G>C | ENSP00000509810.1:n.*95G>C | |
| ENST00000355740.7:c.*429G>C | ENSP00000347979.3:n.*429G>C | |
| ENST00000640140.1:n.1275G>C | ||
| ENST00000640250.1:n.602G>C | ||
| ENST00000640681.1:n.1224G>C | ||
| ENST00000652046.1:c.*95G>C MANE Select | ENSP00000498466.1:n.*95G>C | |
| ENST00000352159.8:c.*420G>C | ENSP00000345601.4:n.*420G>C | |
| ENST00000355740.6:c.*95G>C | ENSP00000347979.2:n.*95G>C | |
| ENST00000479522.5:c.*532G>C | ENSP00000424113.1:n.*532G>C | |
| ENST00000484444.5:c.*544G>C | ENSP00000420975.1:n.*544G>C | |
| ENST00000494410.5:c.*461G>C | ENSP00000423755.1:n.*461G>C | |
| NM_000043.4:c.*95G>C , LRG_134t1:c.*95G>C | NP_000034.1:n.*95G>C | |
| NM_152871.2:c.*95G>C | NP_690610.1:n.*95G>C | |
| NM_152872.2:c.*415G>C | NP_690611.1:n.*415G>C | |
| NR_028033.2:n.1277G>C | ||
| NR_028034.2:n.1139G>C | ||
| NR_028035.2:n.1202G>C | ||
| NR_028036.2:n.1340G>C | ||
| XM_006717819.2:c.*95G>C | XP_006717882.1:n.*95G>C | |
| XM_011539764.1:c.*95G>C | XP_011538066.1:n.*95G>C | |
| XM_011539765.1:c.*95G>C | XP_011538067.1:n.*95G>C | |
| XM_011539766.1:c.*95G>C | XP_011538068.1:n.*95G>C | |
| XM_011539767.1:c.*95G>C | XP_011538069.1:n.*95G>C | |
| NM_000043.5:c.*95G>C | NP_000034.1:n.*95G>C | |
| NM_001320619.1:c.*426G>C | NP_001307548.1:n.*426G>C | |
| NM_152871.3:c.*95G>C | NP_690610.1:n.*95G>C | |
| NM_152872.3:c.*415G>C | NP_690611.1:n.*415G>C | |
| NR_028033.3:n.1249G>C | ||
| NR_028034.3:n.1111G>C | ||
| NR_028035.3:n.1174G>C | ||
| NR_028036.3:n.1312G>C | ||
| NR_135313.1:n.1229G>C | ||
| NR_135314.1:n.1412G>C | ||
| NR_135315.1:n.1165G>C | ||
| XM_006717819.3:c.*95G>C | XP_006717882.1:n.*95G>C | |
| XM_011539764.2:c.*95G>C | XP_011538066.1:n.*95G>C | |
| XM_011539765.2:c.*95G>C | XP_011538067.1:n.*95G>C | |
| XM_011539766.2:c.*95G>C | XP_011538068.1:n.*95G>C | |
| XM_011539767.3:c.*95G>C | XP_011538069.1:n.*95G>C | |
| XR_945732.3:n.1171G>C | ||
| XR_945733.2:n.1108G>C | ||
| NM_000043.6:c.*95G>C MANE Select | NP_000034.1:n.*95G>C | |
| NM_001320619.2:c.*426G>C | NP_001307548.1:n.*426G>C | |
| NM_152871.4:c.*95G>C | NP_690610.1:n.*95G>C | |
| NM_152872.4:c.*415G>C | NP_690611.1:n.*415G>C | |
| NR_028033.4:n.1010G>C | ||
| NR_028034.4:n.872G>C | ||
| NR_028035.4:n.935G>C | ||
| NR_028036.4:n.1073G>C | ||
| NR_135313.2:n.990G>C | ||
| NR_135314.2:n.1269G>C | ||
| NR_135315.2:n.1022G>C |