Linked Data
ClinVar Variation Id:
94444
dbSNP Id:
rs139492098
ExAC:
X:31165546 G / A
gnomAD v2:
X-31165546-G-A
gnomAD v3:
X-31147429-G-A
gnomAD v4:
X-31147429-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.31147429G>A , CM000685.2:g.31147429G>A | GRCh38 |
| NC_000023.10:g.31165546G>A , CM000685.1:g.31165546G>A | GRCh37 |
| NC_000023.9:g.31075467G>A | NCBI36 |
| NG_012232.1:g.2197181C>T , LRG_199:g.2197181C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358062.7:c.5450C>T | ENSP00000350765.3:p.Thr1817Ile | |
| ENST00000680162.2:c.1334C>T | ENSP00000506634.2:p.Thr445Ile | |
| ENST00000680768.2:c.1400C>T | ENSP00000506359.2:p.Thr467Ile | |
| ENST00000681989.1:n.1441C>T | ||
| ENST00000682207.1:n.763C>T | ||
| ENST00000682238.1:c.2933C>T | ENSP00000508124.1:p.Thr978Ile | |
| ENST00000682322.1:c.1334C>T | ENSP00000507690.1:p.Thr445Ile | |
| ENST00000682600.1:c.1400C>T | ENSP00000507640.1:p.Thr467Ile | |
| ENST00000682769.1:n.1235C>T | ||
| ENST00000683503.1:n.2458C>T | ||
| ENST00000683509.1:n.2121C>T | ||
| ENST00000683675.1:n.1742C>T | ||
| ENST00000683709.1:n.2122C>T | ||
| ENST00000683957.1:n.4096C>T | ||
| ENST00000683995.1:n.788C>T | ||
| ENST00000684072.1:n.872C>T | ||
| ENST00000684103.1:n.1051C>T | ||
| ENST00000684130.1:c.3224C>T | ENSP00000508037.1:p.Thr1075Ile | |
| ENST00000684342.1:n.1687C>T | ||
| ENST00000684350.1:n.2458C>T | ||
| ENST00000343523.7:c.2498C>T | ENSP00000340057.4:p.Thr833Ile | |
| ENST00000357033.9:c.10643C>T MANE Select | ENSP00000354923.3:p.Thr3548Ile | |
| ENST00000619831.5:c.6611C>T | ENSP00000479270.2:p.Thr2204Ile | |
| ENST00000620040.5:c.3224C>T | ENSP00000478150.2:p.Thr1075Ile | |
| ENST00000679437.1:c.305C>T | ENSP00000506629.1:p.Thr102Ile | |
| ENST00000679641.1:c.*315C>T | ENSP00000506135.1:n.*315C>T | |
| ENST00000679706.1:c.270C>T | ||
| ENST00000679850.1:n.5654C>T | ||
| ENST00000680162.1:c.1316C>T | ENSP00000506634.1:p.Thr439Ile | |
| ENST00000680355.1:c.1109C>T | ENSP00000506257.1:p.Thr370Ile | |
| ENST00000680557.1:c.604-13235C>T | ENSP00000505164.1:n.604-13235C>T | |
| ENST00000680701.1:n.418C>T | ||
| ENST00000680768.1:c.1343C>T | ENSP00000506359.1:p.Thr448Ile | |
| ENST00000680961.1:c.*606C>T | ENSP00000506386.1:n.*606C>T | |
| ENST00000681026.1:c.305C>T | ENSP00000506689.1:p.Thr102Ile | |
| ENST00000681153.1:c.1400C>T | ENSP00000505124.1:p.Thr467Ile | |
| ENST00000343523.6:c.2456C>T | ENSP00000340057.3:p.Thr819Ile | |
| ENST00000357033.8:c.10643C>T | ENSP00000354923.3:p.Thr3548Ile | |
| ENST00000358062.6:c.3692C>T | ENSP00000350765.2:p.Thr1231Ile | |
| ENST00000359836.5:c.3224C>T | ENSP00000352894.1:p.Thr1075Ile | |
| ENST00000361471.8:c.1400C>T | ENSP00000354464.4:p.Thr467Ile | |
| ENST00000378677.6:c.10631C>T | ENSP00000367948.2:p.Thr3544Ile | |
| ENST00000378680.6:c.1109C>T | ENSP00000367951.2:p.Thr370Ile | |
| ENST00000378702.8:c.1439C>T | ENSP00000367974.4:p.Thr480Ile | |
| ENST00000378707.7:c.3263C>T | ENSP00000367979.3:p.Thr1088Ile | |
| ENST00000378723.7:c.1439C>T | ENSP00000367997.3:p.Thr480Ile | |
| ENST00000474231.5:c.3263C>T | ENSP00000417123.1:p.Thr1088Ile | |
| ENST00000481143.2:n.114+22014C>T | ||
| ENST00000541735.5:c.2933C>T | ENSP00000444119.1:p.Thr978Ile | |
| ENST00000619831.4:c.10628C>T | ENSP00000479270.1:p.Thr3543Ile | |
| ENST00000620040.4:c.10640C>T | ENSP00000478150.1:p.Thr3547Ile | |
| NM_000109.3:c.10619C>T | NP_000100.2:p.Thr3540Ile | |
| NM_004006.2:c.10643C>T , LRG_199t1:c.10643C>T | NP_003997.1:p.Thr3548Ile | |
| NM_004009.3:c.10631C>T | NP_004000.1:p.Thr3544Ile | |
| NM_004010.3:c.10274C>T | NP_004001.1:p.Thr3425Ile | |
| NM_004011.3:c.6620C>T | NP_004002.2:p.Thr2207Ile | |
| NM_004012.3:c.6611C>T | NP_004003.1:p.Thr2204Ile | |
| NM_004013.2:c.3263C>T | NP_004004.1:p.Thr1088Ile | |
| NM_004014.2:c.2456C>T | NP_004005.1:p.Thr819Ile | |
| NM_004015.2:c.1439C>T | NP_004006.1:p.Thr480Ile | |
| NM_004016.2:c.1439C>T | NP_004007.1:p.Thr480Ile | |
| NM_004017.2:c.1400C>T | NP_004008.1:p.Thr467Ile | |
| NM_004018.2:c.1400C>T | NP_004009.1:p.Thr467Ile | |
| NM_004020.3:c.2933C>T | NP_004011.2:p.Thr978Ile | |
| NM_004021.2:c.3263C>T | NP_004012.1:p.Thr1088Ile | |
| NM_004022.2:c.3224C>T | NP_004013.1:p.Thr1075Ile | |
| NM_004023.2:c.2933C>T | NP_004014.1:p.Thr978Ile | |
| XM_006724468.2:c.10643C>T | XP_006724531.1:p.Thr3548Ile | |
| XM_006724469.2:c.10619C>T | XP_006724532.1:p.Thr3540Ile | |
| XM_006724470.2:c.10604C>T | XP_006724533.1:p.Thr3535Ile | |
| XM_006724471.2:c.10538C>T | XP_006724534.1:p.Thr3513Ile | |
| XM_006724472.2:c.10514C>T | XP_006724535.1:p.Thr3505Ile | |
| XM_006724473.2:c.10505C>T | XP_006724536.1:p.Thr3502Ile | |
| XM_006724474.2:c.10313C>T | XP_006724537.1:p.Thr3438Ile | |
| XM_006724475.2:c.10313C>T | XP_006724538.1:p.Thr3438Ile | |
| XM_011545467.1:c.10520C>T | XP_011543769.1:p.Thr3507Ile | |
| XM_006724469.3:c.10619C>T | XP_006724532.1:p.Thr3540Ile | |
| XM_006724470.3:c.10604C>T | XP_006724533.1:p.Thr3535Ile | |
| XM_006724474.3:c.10313C>T | XP_006724537.1:p.Thr3438Ile | |
| XM_017029328.1:c.10604C>T | XP_016884817.1:p.Thr3535Ile | |
| XM_017029331.1:c.4817C>T | XP_016884820.1:p.Thr1606Ile | |
| NM_000109.4:c.10619C>T | NP_000100.3:p.Thr3540Ile | |
| NM_004006.3:c.10643C>T MANE Select | NP_003997.2:p.Thr3548Ile | |
| NM_004011.4:c.6620C>T | NP_004002.3:p.Thr2207Ile | |
| NM_004012.4:c.6611C>T | NP_004003.2:p.Thr2204Ile | |
| NM_004015.3:c.1439C>T | NP_004006.1:p.Thr480Ile | |
| NM_004016.3:c.1439C>T | NP_004007.1:p.Thr480Ile | |
| NM_004017.3:c.1400C>T | NP_004008.1:p.Thr467Ile | |
| NM_004018.3:c.1400C>T | NP_004009.1:p.Thr467Ile | |
| NM_004021.3:c.3263C>T | NP_004012.2:p.Thr1088Ile | |
| NM_004023.3:c.2933C>T | NP_004014.2:p.Thr978Ile | |
| NM_004013.3:c.3263C>T | NP_004004.2:p.Thr1088Ile | |
| NM_004014.3:c.2456C>T | NP_004005.2:p.Thr819Ile | |
| NM_004020.4:c.2933C>T | NP_004011.3:p.Thr978Ile | |
| NM_004022.3:c.3224C>T | NP_004013.2:p.Thr1075Ile |