Linked Data
ClinVar Variation Id:
138546
dbSNP Id:
rs112536447
ExAC:
2:50149214 A / G
gnomAD v2:
2-50149214-A-G
gnomAD v3:
2-49922076-A-G
gnomAD v4:
2-49922076-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.49922076A>G , CM000664.2:g.49922076A>G | GRCh38 |
| NC_000002.11:g.50149214A>G , CM000664.1:g.50149214A>G | GRCh37 |
| NC_000002.10:g.50002718A>G | NCBI36 |
| NG_011878.1:g.1115461T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000401669.7:c.4392T>C MANE Select | ENSP00000385017.2:p.His1464= | |
| ENST00000636345.1:c.300T>C | ENSP00000489745.1:p.His100= | |
| ENST00000637906.1:c.1189T>C | ENSP00000490198.1:n.1189T>C | |
| ENST00000342183.9:c.1197T>C | ENSP00000341184.5:p.His399= | |
| ENST00000378262.7:c.297T>C | ENSP00000367510.4:p.His99= | |
| ENST00000401669.6:c.4392T>C | ENSP00000385017.2:p.His1464= | |
| ENST00000401710.5:c.1287T>C | ENSP00000385580.2:p.His429= | |
| ENST00000404971.5:c.4512T>C | ENSP00000385142.1:p.His1504= | |
| ENST00000405472.7:c.4356T>C | ENSP00000434015.2:p.His1452= | |
| ENST00000406316.6:c.4302T>C | ENSP00000384311.2:p.His1434= | |
| ENST00000412315.5:c.288T>C | ENSP00000396738.2:p.His96= | |
| ENST00000484192.3:n.312T>C | ||
| ENST00000611589.4:c.465T>C | ENSP00000483634.1:p.His155= | |
| ENST00000625672.2:c.4359T>C | ENSP00000485887.1:p.His1453= | |
| ENST00000628364.2:c.1278T>C | ENSP00000485815.1:p.His426= | |
| ENST00000629717.1:n.303T>C | ||
| ENST00000630543.2:c.4368T>C | ENSP00000486879.1:p.His1456= | |
| ENST00000630656.1:c.96T>C | ENSP00000486993.1:p.His32= | |
| ENST00000634412.1:n.537T>C | ||
| ENST00000634431.1:n.518T>C | ||
| ENST00000634764.1:n.497T>C | ||
| ENST00000635164.1:n.1335T>C | ||
| ENST00000635264.1:n.1201T>C | ||
| ENST00000635519.1:c.*202T>C | ENSP00000489258.1:n.*202T>C | |
| NM_001135659.1:c.4512T>C | NP_001129131.1:p.His1504= | |
| NM_004801.4:c.4302T>C | NP_004792.1:p.His1434= | |
| NM_138735.2:c.1197T>C | NP_620072.1:p.His399= | |
| XM_005264642.2:c.4404T>C | XP_005264699.1:p.His1468= | |
| XM_005264643.2:c.4359T>C | XP_005264700.1:p.His1453= | |
| XM_006712137.2:c.4314T>C | XP_006712200.1:p.His1438= | |
| XM_011533167.1:c.4413T>C | XP_011531469.1:p.His1471= | |
| XM_011533168.1:c.4410T>C | XP_011531470.1:p.His1470= | |
| XM_011533169.1:c.4401T>C | XP_011531471.1:p.His1467= | |
| XM_011533170.1:c.4395T>C | XP_011531472.1:p.His1465= | |
| XM_011533171.1:c.4392T>C | XP_011531473.1:p.His1464= | |
| XM_011533172.1:c.4386T>C | XP_011531474.1:p.His1462= | |
| XM_011533173.1:c.4383T>C | XP_011531475.1:p.His1461= | |
| XM_011533174.1:c.4368T>C | XP_011531476.1:p.His1456= | |
| XM_011533175.1:c.4356T>C | XP_011531477.1:p.His1452= | |
| XM_011533176.1:c.4353T>C | XP_011531478.1:p.His1451= | |
| XM_011533177.1:c.4323T>C | XP_011531479.1:p.His1441= | |
| XM_011533178.1:c.4323T>C | XP_011531480.1:p.His1441= | |
| XM_011533179.1:c.4278T>C | XP_011531481.1:p.His1426= | |
| XM_011533181.1:c.3618T>C | XP_011531483.1:p.His1206= | |
| XM_011533182.1:c.3573T>C | XP_011531484.1:p.His1191= | |
| XM_011533183.1:c.3546T>C | XP_011531485.1:p.His1182= | |
| XM_011533184.1:c.3453T>C | XP_011531486.1:p.His1151= | |
| NM_001135659.2:c.4512T>C | NP_001129131.1:p.His1504= | |
| NM_001320156.3:c.297T>C | NP_001307085.1:p.His99= | |
| NM_001320157.3:c.288T>C | NP_001307086.1:p.His96= | |
| NM_001330077.1:c.4368T>C | NP_001317006.1:p.His1456= | |
| NM_001330078.1:c.4392T>C | NP_001317007.1:p.His1464= | |
| NM_001330082.1:c.4359T>C | NP_001317011.1:p.His1453= | |
| NM_001330083.1:c.4227T>C | NP_001317012.1:p.His1409= | |
| NM_001330084.1:c.4326T>C | NP_001317013.1:p.His1442= | |
| NM_001330085.1:c.4365T>C | NP_001317014.1:p.His1455= | |
| NM_001330086.1:c.4383T>C | NP_001317015.1:p.His1461= | |
| NM_001330087.1:c.4191T>C | NP_001317016.1:p.His1397= | |
| NM_001330088.1:c.4212T>C | NP_001317017.1:p.His1404= | |
| NM_001330091.1:c.1278T>C | NP_001317020.1:p.His426= | |
| NM_001330092.1:c.1287T>C | NP_001317021.1:p.His429= | |
| NM_001330093.1:c.4389T>C | NP_001317022.1:p.His1463= | |
| NM_001330094.1:c.4371T>C | NP_001317023.1:p.His1457= | |
| NM_001330095.1:c.4251T>C | NP_001317024.1:p.His1417= | |
| NM_001330096.1:c.4182T>C | NP_001317025.1:p.His1394= | |
| NM_001330097.1:c.1188T>C | NP_001317026.1:p.His396= | |
| NM_004801.5:c.4302T>C | NP_004792.1:p.His1434= | |
| NM_138735.4:c.1197T>C | NP_620072.1:p.His399= | |
| XM_005264642.4:c.4404T>C | XP_005264699.1:p.His1468= | |
| XM_006712137.4:c.4314T>C | XP_006712200.1:p.His1438= | |
| XM_011533167.3:c.4413T>C | XP_011531469.1:p.His1471= | |
| XM_011533172.3:c.4386T>C | XP_011531474.1:p.His1462= | |
| XM_011533175.3:c.4356T>C | XP_011531477.1:p.His1452= | |
| XM_011533177.3:c.4323T>C | XP_011531479.1:p.His1441= | |
| XM_011533178.3:c.4323T>C | XP_011531480.1:p.His1441= | |
| XM_011533183.2:c.3546T>C | XP_011531485.1:p.His1182= | |
| XM_017005303.2:c.4440T>C | XP_016860792.1:p.His1480= | |
| XM_017005304.2:c.4437T>C | XP_016860793.1:p.His1479= | |
| XM_017005305.2:c.4431T>C | XP_016860794.1:p.His1477= | |
| XM_017005306.2:c.4428T>C | XP_016860795.1:p.His1476= | |
| XM_017005307.2:c.4422T>C | XP_016860796.1:p.His1474= | |
| XM_017005308.2:c.4419T>C | XP_016860797.1:p.His1473= | |
| XM_017005309.2:c.4413T>C | XP_016860798.1:p.His1471= | |
| XM_017005310.2:c.4410T>C | XP_016860799.1:p.His1470= | |
| XM_017005311.2:c.4395T>C | XP_016860800.1:p.His1465= | |
| XM_017005314.2:c.4380T>C | XP_016860803.1:p.His1460= | |
| XM_017005315.2:c.4377T>C | XP_016860804.1:p.His1459= | |
| XM_017005316.2:c.4377T>C | XP_016860805.1:p.His1459= | |
| XM_017005318.2:c.4368T>C | XP_016860807.1:p.His1456= | |
| XM_017005320.2:c.4356T>C | XP_016860809.1:p.His1452= | |
| XM_017005321.2:c.4350T>C | XP_016860810.1:p.His1450= | |
| XM_017005322.2:c.4341T>C | XP_016860811.1:p.His1447= | |
| XM_017005324.2:c.4296T>C | XP_016860813.1:p.His1432= | |
| XM_017005325.2:c.4287T>C | XP_016860814.1:p.His1429= | |
| XM_017005326.2:c.4284T>C | XP_016860815.1:p.His1428= | |
| XM_017005327.2:c.4269T>C | XP_016860816.1:p.His1423= | |
| XM_017005334.2:c.3480T>C | XP_016860823.1:p.His1160= | |
| NM_001330078.2:c.4392T>C MANE Select | NP_001317007.1:p.His1464= | |
| NM_001135659.3:c.4512T>C | NP_001129131.1:p.His1504= | |
| NM_001320156.4:c.297T>C | NP_001307085.1:p.His99= | |
| NM_001320157.4:c.288T>C | NP_001307086.1:p.His96= | |
| NM_001330077.2:c.4368T>C | NP_001317006.1:p.His1456= | |
| NM_001330082.2:c.4359T>C | NP_001317011.1:p.His1453= | |
| NM_001330083.2:c.4227T>C | NP_001317012.1:p.His1409= | |
| NM_001330084.2:c.4326T>C | NP_001317013.1:p.His1442= | |
| NM_001330085.2:c.4365T>C | NP_001317014.1:p.His1455= | |
| NM_001330086.2:c.4383T>C | NP_001317015.1:p.His1461= | |
| NM_001330087.2:c.4191T>C | NP_001317016.1:p.His1397= | |
| NM_001330088.2:c.4212T>C | NP_001317017.1:p.His1404= | |
| NM_001330091.2:c.1278T>C | NP_001317020.1:p.His426= | |
| NM_001330092.2:c.1287T>C | NP_001317021.1:p.His429= | |
| NM_001330093.2:c.4389T>C | NP_001317022.1:p.His1463= | |
| NM_001330094.2:c.4371T>C | NP_001317023.1:p.His1457= | |
| NM_001330095.2:c.4251T>C | NP_001317024.1:p.His1417= | |
| NM_001330096.2:c.4182T>C | NP_001317025.1:p.His1394= | |
| NM_001330097.2:c.1188T>C | NP_001317026.1:p.His396= | |
| NM_004801.6:c.4302T>C | NP_004792.1:p.His1434= | |
| NM_138735.5:c.1197T>C | NP_620072.1:p.His399= |