Linked Data
ClinVar Variation Id:
288163
dbSNP Id:
rs377505638
gnomAD v2:
X-31341700-A-T
gnomAD v3:
X-31323583-A-T
gnomAD v4:
X-31323583-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.31323583A>T , CM000685.2:g.31323583A>T | GRCh38 |
| NC_000023.10:g.31341700A>T , CM000685.1:g.31341700A>T | GRCh37 |
| NC_000023.9:g.31251621A>T | NCBI36 |
| NG_012232.1:g.2021027T>A , LRG_199:g.2021027T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358062.7:c.4070+15T>A | ENSP00000350765.3:n.4070+15T>A | |
| ENST00000682238.1:c.1844+15T>A | ENSP00000508124.1:n.1844+15T>A | |
| ENST00000683675.1:n.323+15T>A | ||
| ENST00000683957.1:n.2716+15T>A | ||
| ENST00000684130.1:c.1844+15T>A | ENSP00000508037.1:n.1844+15T>A | |
| ENST00000343523.7:c.1079+15T>A | ENSP00000340057.4:n.1079+15T>A | |
| ENST00000357033.9:c.9224+15T>A MANE Select | ENSP00000354923.3:n.9224+15T>A | |
| ENST00000619831.5:c.5192+15T>A | ENSP00000479270.2:n.5192+15T>A | |
| ENST00000620040.5:c.1844+15T>A | ENSP00000478150.2:n.1844+15T>A | |
| ENST00000680961.1:c.1844+15T>A | ENSP00000506386.1:n.1844+15T>A | |
| ENST00000681646.1:n.2885+15T>A | ||
| ENST00000343523.6:c.1037+15T>A | ENSP00000340057.3:n.1037+15T>A | |
| ENST00000357033.8:c.9224+15T>A | ENSP00000354923.3:n.9224+15T>A | |
| ENST00000358062.6:c.2312+15T>A | ENSP00000350765.2:n.2312+15T>A | |
| ENST00000359836.5:c.1844+15T>A | ENSP00000352894.1:n.1844+15T>A | |
| ENST00000378677.6:c.9212+15T>A | ENSP00000367948.2:n.9212+15T>A | |
| ENST00000378707.7:c.1844+15T>A | ENSP00000367979.3:n.1844+15T>A | |
| ENST00000469142.1:n.243+15T>A | ||
| ENST00000474231.5:c.1844+15T>A | ENSP00000417123.1:n.1844+15T>A | |
| ENST00000541735.5:c.1844+15T>A | ENSP00000444119.1:n.1844+15T>A | |
| ENST00000619831.4:c.9209+15T>A | ENSP00000479270.1:n.9209+15T>A | |
| ENST00000620040.4:c.9221+15T>A | ENSP00000478150.1:n.9221+15T>A | |
| ENST00000634315.1:n.33+15T>A | ||
| NM_000109.3:c.9200+15T>A | NP_000100.2:n.9200+15T>A | |
| NM_004006.2:c.9224+15T>A , LRG_199t1:c.9224+15T>A | NP_003997.1:n.9224+15T>A | |
| NM_004009.3:c.9212+15T>A | NP_004000.1:n.9212+15T>A | |
| NM_004010.3:c.8855+15T>A | NP_004001.1:n.8855+15T>A | |
| NM_004011.3:c.5201+15T>A | NP_004002.2:n.5201+15T>A | |
| NM_004012.3:c.5192+15T>A | NP_004003.1:n.5192+15T>A | |
| NM_004013.2:c.1844+15T>A | NP_004004.1:n.1844+15T>A | |
| NM_004014.2:c.1037+15T>A | NP_004005.1:n.1037+15T>A | |
| NM_004020.3:c.1844+15T>A | NP_004011.2:n.1844+15T>A | |
| NM_004021.2:c.1844+15T>A | NP_004012.1:n.1844+15T>A | |
| NM_004022.2:c.1844+15T>A | NP_004013.1:n.1844+15T>A | |
| NM_004023.2:c.1844+15T>A | NP_004014.1:n.1844+15T>A | |
| XM_006724468.2:c.9224+15T>A | XP_006724531.1:n.9224+15T>A | |
| XM_006724469.2:c.9200+15T>A | XP_006724532.1:n.9200+15T>A | |
| XM_006724470.2:c.9224+15T>A | XP_006724533.1:n.9224+15T>A | |
| XM_006724471.2:c.9224+15T>A | XP_006724534.1:n.9224+15T>A | |
| XM_006724472.2:c.9095+15T>A | XP_006724535.1:n.9095+15T>A | |
| XM_006724473.2:c.9086+15T>A | XP_006724536.1:n.9086+15T>A | |
| XM_006724474.2:c.9224+15T>A | XP_006724537.1:n.9224+15T>A | |
| XM_006724475.2:c.9224+15T>A | XP_006724538.1:n.9224+15T>A | |
| XM_011545467.1:c.9101+15T>A | XP_011543769.1:n.9101+15T>A | |
| XM_011545468.1:c.9224+15T>A | XP_011543770.1:n.9224+15T>A | |
| XM_006724469.3:c.9200+15T>A | XP_006724532.1:n.9200+15T>A | |
| XM_006724470.3:c.9224+15T>A | XP_006724533.1:n.9224+15T>A | |
| XM_006724474.3:c.9224+15T>A | XP_006724537.1:n.9224+15T>A | |
| XM_011545468.2:c.9224+15T>A | XP_011543770.1:n.9224+15T>A | |
| XM_017029328.1:c.9224+15T>A | XP_016884817.1:n.9224+15T>A | |
| XM_017029331.1:c.3398+15T>A | XP_016884820.1:n.3398+15T>A | |
| NM_000109.4:c.9200+15T>A | NP_000100.3:n.9200+15T>A | |
| NM_004006.3:c.9224+15T>A MANE Select | NP_003997.2:n.9224+15T>A | |
| NM_004011.4:c.5201+15T>A | NP_004002.3:n.5201+15T>A | |
| NM_004012.4:c.5192+15T>A | NP_004003.2:n.5192+15T>A | |
| NM_004021.3:c.1844+15T>A | NP_004012.2:n.1844+15T>A | |
| NM_004023.3:c.1844+15T>A | NP_004014.2:n.1844+15T>A | |
| NM_004013.3:c.1844+15T>A | NP_004004.2:n.1844+15T>A | |
| NM_004014.3:c.1037+15T>A | NP_004005.2:n.1037+15T>A | |
| NM_004020.4:c.1844+15T>A | NP_004011.3:n.1844+15T>A | |
| NM_004022.3:c.1844+15T>A | NP_004013.2:n.1844+15T>A |