Linked Data
ClinVar Variation Id:
286157
dbSNP Id:
rs886043324
gnomAD v2:
X-31165597-T-C
gnomAD v3:
X-31147480-T-C
gnomAD v4:
X-31147480-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.31147480T>C , CM000685.2:g.31147480T>C | GRCh38 |
| NC_000023.10:g.31165597T>C , CM000685.1:g.31165597T>C | GRCh37 |
| NC_000023.9:g.31075518T>C | NCBI36 |
| NG_012232.1:g.2197130A>G , LRG_199:g.2197130A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358062.7:c.5399A>G | ENSP00000350765.3:p.His1800Arg | |
| ENST00000680162.2:c.1283A>G | ENSP00000506634.2:p.His428Arg | |
| ENST00000680768.2:c.1349A>G | ENSP00000506359.2:p.His450Arg | |
| ENST00000681989.1:n.1390A>G | ||
| ENST00000682207.1:n.712A>G | ||
| ENST00000682238.1:c.2882A>G | ENSP00000508124.1:p.His961Arg | |
| ENST00000682322.1:c.1283A>G | ENSP00000507690.1:p.His428Arg | |
| ENST00000682600.1:c.1349A>G | ENSP00000507640.1:p.His450Arg | |
| ENST00000682769.1:n.1184A>G | ||
| ENST00000683503.1:n.2407A>G | ||
| ENST00000683509.1:n.2070A>G | ||
| ENST00000683675.1:n.1691A>G | ||
| ENST00000683709.1:n.2071A>G | ||
| ENST00000683957.1:n.4045A>G | ||
| ENST00000683995.1:n.737A>G | ||
| ENST00000684072.1:n.821A>G | ||
| ENST00000684103.1:n.1000A>G | ||
| ENST00000684130.1:c.3173A>G | ENSP00000508037.1:p.His1058Arg | |
| ENST00000684342.1:n.1636A>G | ||
| ENST00000684350.1:n.2407A>G | ||
| ENST00000343523.7:c.2447A>G | ENSP00000340057.4:p.His816Arg | |
| ENST00000357033.9:c.10592A>G MANE Select | ENSP00000354923.3:p.His3531Arg | |
| ENST00000619831.5:c.6560A>G | ENSP00000479270.2:p.His2187Arg | |
| ENST00000620040.5:c.3173A>G | ENSP00000478150.2:p.His1058Arg | |
| ENST00000679437.1:c.254A>G | ENSP00000506629.1:p.His85Arg | |
| ENST00000679641.1:c.*264A>G | ENSP00000506135.1:n.*264A>G | |
| ENST00000679706.1:c.219A>G | ||
| ENST00000679850.1:n.5603A>G | ||
| ENST00000680162.1:c.1265A>G | ENSP00000506634.1:p.His422Arg | |
| ENST00000680355.1:c.1058A>G | ENSP00000506257.1:p.His353Arg | |
| ENST00000680557.1:c.604-13286A>G | ENSP00000505164.1:n.604-13286A>G | |
| ENST00000680701.1:n.367A>G | ||
| ENST00000680768.1:c.1292A>G | ENSP00000506359.1:p.His431Arg | |
| ENST00000680961.1:c.*555A>G | ENSP00000506386.1:n.*555A>G | |
| ENST00000681026.1:c.254A>G | ENSP00000506689.1:p.His85Arg | |
| ENST00000681153.1:c.1349A>G | ENSP00000505124.1:p.His450Arg | |
| ENST00000343523.6:c.2405A>G | ENSP00000340057.3:p.His802Arg | |
| ENST00000357033.8:c.10592A>G | ENSP00000354923.3:p.His3531Arg | |
| ENST00000358062.6:c.3641A>G | ENSP00000350765.2:p.His1214Arg | |
| ENST00000359836.5:c.3173A>G | ENSP00000352894.1:p.His1058Arg | |
| ENST00000361471.8:c.1349A>G | ENSP00000354464.4:p.His450Arg | |
| ENST00000378677.6:c.10580A>G | ENSP00000367948.2:p.His3527Arg | |
| ENST00000378680.6:c.1058A>G | ENSP00000367951.2:p.His353Arg | |
| ENST00000378702.8:c.1388A>G | ENSP00000367974.4:p.His463Arg | |
| ENST00000378707.7:c.3212A>G | ENSP00000367979.3:p.His1071Arg | |
| ENST00000378723.7:c.1388A>G | ENSP00000367997.3:p.His463Arg | |
| ENST00000474231.5:c.3212A>G | ENSP00000417123.1:p.His1071Arg | |
| ENST00000481143.2:n.114+21963A>G | ||
| ENST00000541735.5:c.2882A>G | ENSP00000444119.1:p.His961Arg | |
| ENST00000619831.4:c.10577A>G | ENSP00000479270.1:p.His3526Arg | |
| ENST00000620040.4:c.10589A>G | ENSP00000478150.1:p.His3530Arg | |
| NM_000109.3:c.10568A>G | NP_000100.2:p.His3523Arg | |
| NM_004006.2:c.10592A>G , LRG_199t1:c.10592A>G | NP_003997.1:p.His3531Arg | |
| NM_004009.3:c.10580A>G | NP_004000.1:p.His3527Arg | |
| NM_004010.3:c.10223A>G | NP_004001.1:p.His3408Arg | |
| NM_004011.3:c.6569A>G | NP_004002.2:p.His2190Arg | |
| NM_004012.3:c.6560A>G | NP_004003.1:p.His2187Arg | |
| NM_004013.2:c.3212A>G | NP_004004.1:p.His1071Arg | |
| NM_004014.2:c.2405A>G | NP_004005.1:p.His802Arg | |
| NM_004015.2:c.1388A>G | NP_004006.1:p.His463Arg | |
| NM_004016.2:c.1388A>G | NP_004007.1:p.His463Arg | |
| NM_004017.2:c.1349A>G | NP_004008.1:p.His450Arg | |
| NM_004018.2:c.1349A>G | NP_004009.1:p.His450Arg | |
| NM_004020.3:c.2882A>G | NP_004011.2:p.His961Arg | |
| NM_004021.2:c.3212A>G | NP_004012.1:p.His1071Arg | |
| NM_004022.2:c.3173A>G | NP_004013.1:p.His1058Arg | |
| NM_004023.2:c.2882A>G | NP_004014.1:p.His961Arg | |
| XM_006724468.2:c.10592A>G | XP_006724531.1:p.His3531Arg | |
| XM_006724469.2:c.10568A>G | XP_006724532.1:p.His3523Arg | |
| XM_006724470.2:c.10553A>G | XP_006724533.1:p.His3518Arg | |
| XM_006724471.2:c.10487A>G | XP_006724534.1:p.His3496Arg | |
| XM_006724472.2:c.10463A>G | XP_006724535.1:p.His3488Arg | |
| XM_006724473.2:c.10454A>G | XP_006724536.1:p.His3485Arg | |
| XM_006724474.2:c.10262A>G | XP_006724537.1:p.His3421Arg | |
| XM_006724475.2:c.10262A>G | XP_006724538.1:p.His3421Arg | |
| XM_011545467.1:c.10469A>G | XP_011543769.1:p.His3490Arg | |
| XM_006724469.3:c.10568A>G | XP_006724532.1:p.His3523Arg | |
| XM_006724470.3:c.10553A>G | XP_006724533.1:p.His3518Arg | |
| XM_006724474.3:c.10262A>G | XP_006724537.1:p.His3421Arg | |
| XM_017029328.1:c.10553A>G | XP_016884817.1:p.His3518Arg | |
| XM_017029331.1:c.4766A>G | XP_016884820.1:p.His1589Arg | |
| NM_000109.4:c.10568A>G | NP_000100.3:p.His3523Arg | |
| NM_004006.3:c.10592A>G MANE Select | NP_003997.2:p.His3531Arg | |
| NM_004011.4:c.6569A>G | NP_004002.3:p.His2190Arg | |
| NM_004012.4:c.6560A>G | NP_004003.2:p.His2187Arg | |
| NM_004015.3:c.1388A>G | NP_004006.1:p.His463Arg | |
| NM_004016.3:c.1388A>G | NP_004007.1:p.His463Arg | |
| NM_004017.3:c.1349A>G | NP_004008.1:p.His450Arg | |
| NM_004018.3:c.1349A>G | NP_004009.1:p.His450Arg | |
| NM_004021.3:c.3212A>G | NP_004012.2:p.His1071Arg | |
| NM_004023.3:c.2882A>G | NP_004014.2:p.His961Arg | |
| NM_004013.3:c.3212A>G | NP_004004.2:p.His1071Arg | |
| NM_004014.3:c.2405A>G | NP_004005.2:p.His802Arg | |
| NM_004020.4:c.2882A>G | NP_004011.3:p.His961Arg | |
| NM_004022.3:c.3173A>G | NP_004013.2:p.His1058Arg |