Linked Data
ClinVar Variation Id:
2784016
ClinVar RCV Id:
RCV003621827
dbSNP Id:
rs1414694676
gnomAD v2:
X-31224788-T-A
gnomAD v3:
X-31206671-T-A
gnomAD v4:
X-31206671-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.31206671T>A , CM000685.2:g.31206671T>A | GRCh38 |
| NC_000023.10:g.31224788T>A , CM000685.1:g.31224788T>A | GRCh37 |
| NC_000023.9:g.31134709T>A | NCBI36 |
| NG_012232.1:g.2137939A>T , LRG_199:g.2137939A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358062.7:c.4410-4A>T | ENSP00000350765.3:n.4410-4A>T | |
| ENST00000680162.2:c.360-4A>T | ENSP00000506634.2:n.360-4A>T | |
| ENST00000680768.2:c.360-4A>T | ENSP00000506359.2:n.360-4A>T | |
| ENST00000681989.1:n.362-4A>T | ||
| ENST00000682238.1:c.2184-4A>T | ENSP00000508124.1:n.2184-4A>T | |
| ENST00000682322.1:c.360-4A>T | ENSP00000507690.1:n.360-4A>T | |
| ENST00000682600.1:c.360-4A>T | ENSP00000507640.1:n.360-4A>T | |
| ENST00000682769.1:n.362-4A>T | ||
| ENST00000683509.1:n.1081-4A>T | ||
| ENST00000683675.1:n.663-4A>T | ||
| ENST00000683709.1:n.1082-4A>T | ||
| ENST00000683957.1:n.3056-4A>T | ||
| ENST00000684130.1:c.2184-4A>T | ENSP00000508037.1:n.2184-4A>T | |
| ENST00000343523.7:c.1419-4A>T | ENSP00000340057.4:n.1419-4A>T | |
| ENST00000357033.9:c.9564-4A>T MANE Select | ENSP00000354923.3:n.9564-4A>T | |
| ENST00000619831.5:c.5532-4A>T | ENSP00000479270.2:n.5532-4A>T | |
| ENST00000620040.5:c.2184-4A>T | ENSP00000478150.2:n.2184-4A>T | |
| ENST00000679641.1:c.360-4A>T | ENSP00000506135.1:n.360-4A>T | |
| ENST00000680162.1:c.237-4A>T | ENSP00000506634.1:n.237-4A>T | |
| ENST00000680355.1:c.360-4A>T | ENSP00000506257.1:n.360-4A>T | |
| ENST00000680557.1:c.360-4A>T | ENSP00000505164.1:n.360-4A>T | |
| ENST00000680768.1:c.303-4A>T | ENSP00000506359.1:n.303-4A>T | |
| ENST00000680961.1:c.2184-4A>T | ENSP00000506386.1:n.2184-4A>T | |
| ENST00000681153.1:c.360-4A>T | ENSP00000505124.1:n.360-4A>T | |
| ENST00000681334.1:c.360-4A>T | ENSP00000506066.1:n.360-4A>T | |
| ENST00000681654.1:n.494-4A>T | ||
| ENST00000343523.6:c.1377-4A>T | ENSP00000340057.3:n.1377-4A>T | |
| ENST00000357033.8:c.9564-4A>T | ENSP00000354923.3:n.9564-4A>T | |
| ENST00000358062.6:c.2652-4A>T | ENSP00000350765.2:n.2652-4A>T | |
| ENST00000359836.5:c.2184-4A>T | ENSP00000352894.1:n.2184-4A>T | |
| ENST00000361471.8:c.360-4A>T | ENSP00000354464.4:n.360-4A>T | |
| ENST00000378677.6:c.9552-4A>T | ENSP00000367948.2:n.9552-4A>T | |
| ENST00000378680.6:c.360-4A>T | ENSP00000367951.2:n.360-4A>T | |
| ENST00000378702.8:c.360-4A>T | ENSP00000367974.4:n.360-4A>T | |
| ENST00000378707.7:c.2184-4A>T | ENSP00000367979.3:n.2184-4A>T | |
| ENST00000378723.7:c.360-4A>T | ENSP00000367997.3:n.360-4A>T | |
| ENST00000474231.5:c.2184-4A>T | ENSP00000417123.1:n.2184-4A>T | |
| ENST00000541735.5:c.2184-4A>T | ENSP00000444119.1:n.2184-4A>T | |
| ENST00000619831.4:c.9549-4A>T | ENSP00000479270.1:n.9549-4A>T | |
| ENST00000620040.4:c.9561-4A>T | ENSP00000478150.1:n.9561-4A>T | |
| NM_000109.3:c.9540-4A>T | NP_000100.2:n.9540-4A>T | |
| NM_004006.2:c.9564-4A>T , LRG_199t1:c.9564-4A>T | NP_003997.1:n.9564-4A>T | |
| NM_004009.3:c.9552-4A>T | NP_004000.1:n.9552-4A>T | |
| NM_004010.3:c.9195-4A>T | NP_004001.1:n.9195-4A>T | |
| NM_004011.3:c.5541-4A>T | NP_004002.2:n.5541-4A>T | |
| NM_004012.3:c.5532-4A>T | NP_004003.1:n.5532-4A>T | |
| NM_004013.2:c.2184-4A>T | NP_004004.1:n.2184-4A>T | |
| NM_004014.2:c.1377-4A>T | NP_004005.1:n.1377-4A>T | |
| NM_004015.2:c.360-4A>T | NP_004006.1:n.360-4A>T | |
| NM_004016.2:c.360-4A>T | NP_004007.1:n.360-4A>T | |
| NM_004017.2:c.360-4A>T | NP_004008.1:n.360-4A>T | |
| NM_004018.2:c.360-4A>T | NP_004009.1:n.360-4A>T | |
| NM_004019.2:c.360-4A>T | NP_004010.1:n.360-4A>T | |
| NM_004020.3:c.2184-4A>T | NP_004011.2:n.2184-4A>T | |
| NM_004021.2:c.2184-4A>T | NP_004012.1:n.2184-4A>T | |
| NM_004022.2:c.2184-4A>T | NP_004013.1:n.2184-4A>T | |
| NM_004023.2:c.2184-4A>T | NP_004014.1:n.2184-4A>T | |
| XM_006724468.2:c.9564-4A>T | XP_006724531.1:n.9564-4A>T | |
| XM_006724469.2:c.9540-4A>T | XP_006724532.1:n.9540-4A>T | |
| XM_006724470.2:c.9564-4A>T | XP_006724533.1:n.9564-4A>T | |
| XM_006724471.2:c.9564-4A>T | XP_006724534.1:n.9564-4A>T | |
| XM_006724472.2:c.9435-4A>T | XP_006724535.1:n.9435-4A>T | |
| XM_006724473.2:c.9426-4A>T | XP_006724536.1:n.9426-4A>T | |
| XM_006724474.2:c.9564-4A>T | XP_006724537.1:n.9564-4A>T | |
| XM_006724475.2:c.9564-4A>T | XP_006724538.1:n.9564-4A>T | |
| XM_011545467.1:c.9441-4A>T | XP_011543769.1:n.9441-4A>T | |
| XM_011545468.1:c.9564-4A>T | XP_011543770.1:n.9564-4A>T | |
| XM_006724469.3:c.9540-4A>T | XP_006724532.1:n.9540-4A>T | |
| XM_006724470.3:c.9564-4A>T | XP_006724533.1:n.9564-4A>T | |
| XM_006724474.3:c.9564-4A>T | XP_006724537.1:n.9564-4A>T | |
| XM_011545468.2:c.9564-4A>T | XP_011543770.1:n.9564-4A>T | |
| XM_017029328.1:c.9564-4A>T | XP_016884817.1:n.9564-4A>T | |
| XM_017029331.1:c.3738-4A>T | XP_016884820.1:n.3738-4A>T | |
| NM_000109.4:c.9540-4A>T | NP_000100.3:n.9540-4A>T | |
| NM_004006.3:c.9564-4A>T MANE Select | NP_003997.2:n.9564-4A>T | |
| NM_004011.4:c.5541-4A>T | NP_004002.3:n.5541-4A>T | |
| NM_004012.4:c.5532-4A>T | NP_004003.2:n.5532-4A>T | |
| NM_004015.3:c.360-4A>T | NP_004006.1:n.360-4A>T | |
| NM_004016.3:c.360-4A>T | NP_004007.1:n.360-4A>T | |
| NM_004017.3:c.360-4A>T | NP_004008.1:n.360-4A>T | |
| NM_004018.3:c.360-4A>T | NP_004009.1:n.360-4A>T | |
| NM_004019.3:c.360-4A>T | NP_004010.1:n.360-4A>T | |
| NM_004021.3:c.2184-4A>T | NP_004012.2:n.2184-4A>T | |
| NM_004023.3:c.2184-4A>T | NP_004014.2:n.2184-4A>T | |
| NM_004013.3:c.2184-4A>T | NP_004004.2:n.2184-4A>T | |
| NM_004014.3:c.1377-4A>T | NP_004005.2:n.1377-4A>T | |
| NM_004020.4:c.2184-4A>T | NP_004011.3:n.2184-4A>T | |
| NM_004022.3:c.2184-4A>T | NP_004013.2:n.2184-4A>T |