Linked Data
ClinVar Variation Id:
239613
dbSNP Id:
rs201718067
ExAC:
X:31241200 C / A
gnomAD v2:
X-31241200-C-A
gnomAD v3:
X-31223083-C-A
gnomAD v4:
X-31223083-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.31223083C>A , CM000685.2:g.31223083C>A | GRCh38 |
| NC_000023.10:g.31241200C>A , CM000685.1:g.31241200C>A | GRCh37 |
| NC_000023.9:g.31151121C>A | NCBI36 |
| NG_012232.1:g.2121527G>T , LRG_199:g.2121527G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358062.7:c.4171G>T | ENSP00000350765.3:p.Ala1391Ser | |
| ENST00000680162.2:c.121G>T | ENSP00000506634.2:p.Ala41Ser | |
| ENST00000680768.2:c.121G>T | ENSP00000506359.2:p.Ala41Ser | |
| ENST00000681989.1:n.123G>T | ||
| ENST00000682238.1:c.1945G>T | ENSP00000508124.1:p.Ala649Ser | |
| ENST00000682322.1:c.121G>T | ENSP00000507690.1:p.Ala41Ser | |
| ENST00000682600.1:c.121G>T | ENSP00000507640.1:p.Ala41Ser | |
| ENST00000682769.1:n.123G>T | ||
| ENST00000683509.1:n.842G>T | ||
| ENST00000683675.1:n.424G>T | ||
| ENST00000683709.1:n.843G>T | ||
| ENST00000683957.1:n.2817G>T | ||
| ENST00000684130.1:c.1945G>T | ENSP00000508037.1:p.Ala649Ser | |
| ENST00000343523.7:c.1180G>T | ENSP00000340057.4:p.Ala394Ser | |
| ENST00000357033.9:c.9325G>T MANE Select | ENSP00000354923.3:p.Ala3109Ser | |
| ENST00000619831.5:c.5293G>T | ENSP00000479270.2:p.Ala1765Ser | |
| ENST00000620040.5:c.1945G>T | ENSP00000478150.2:p.Ala649Ser | |
| ENST00000679641.1:c.121G>T | ENSP00000506135.1:p.Ala41Ser | |
| ENST00000680162.1:c.-3G>T | ENSP00000506634.1:n.-3G>T | |
| ENST00000680355.1:c.121G>T | ENSP00000506257.1:p.Ala41Ser | |
| ENST00000680557.1:c.121G>T | ENSP00000505164.1:p.Ala41Ser | |
| ENST00000680768.1:c.64G>T | ENSP00000506359.1:p.Ala22Ser | |
| ENST00000680961.1:c.1945G>T | ENSP00000506386.1:p.Ala649Ser | |
| ENST00000681153.1:c.121G>T | ENSP00000505124.1:p.Ala41Ser | |
| ENST00000681334.1:c.121G>T | ENSP00000506066.1:p.Ala41Ser | |
| ENST00000681646.1:n.2986G>T | ||
| ENST00000681654.1:n.255G>T | ||
| ENST00000343523.6:c.1138G>T | ENSP00000340057.3:p.Ala380Ser | |
| ENST00000357033.8:c.9325G>T | ENSP00000354923.3:p.Ala3109Ser | |
| ENST00000358062.6:c.2413G>T | ENSP00000350765.2:p.Ala805Ser | |
| ENST00000359836.5:c.1945G>T | ENSP00000352894.1:p.Ala649Ser | |
| ENST00000361471.8:c.121G>T | ENSP00000354464.4:p.Ala41Ser | |
| ENST00000378677.6:c.9313G>T | ENSP00000367948.2:p.Ala3105Ser | |
| ENST00000378680.6:c.121G>T | ENSP00000367951.2:p.Ala41Ser | |
| ENST00000378702.8:c.121G>T | ENSP00000367974.4:p.Ala41Ser | |
| ENST00000378707.7:c.1945G>T | ENSP00000367979.3:p.Ala649Ser | |
| ENST00000378723.7:c.121G>T | ENSP00000367997.3:p.Ala41Ser | |
| ENST00000469142.1:n.344G>T | ||
| ENST00000474231.5:c.1945G>T | ENSP00000417123.1:p.Ala649Ser | |
| ENST00000541735.5:c.1945G>T | ENSP00000444119.1:p.Ala649Ser | |
| ENST00000619831.4:c.9310G>T | ENSP00000479270.1:p.Ala3104Ser | |
| ENST00000620040.4:c.9322G>T | ENSP00000478150.1:p.Ala3108Ser | |
| NM_000109.3:c.9301G>T | NP_000100.2:p.Ala3101Ser | |
| NM_004006.2:c.9325G>T , LRG_199t1:c.9325G>T | NP_003997.1:p.Ala3109Ser | |
| NM_004009.3:c.9313G>T | NP_004000.1:p.Ala3105Ser | |
| NM_004010.3:c.8956G>T | NP_004001.1:p.Ala2986Ser | |
| NM_004011.3:c.5302G>T | NP_004002.2:p.Ala1768Ser | |
| NM_004012.3:c.5293G>T | NP_004003.1:p.Ala1765Ser | |
| NM_004013.2:c.1945G>T | NP_004004.1:p.Ala649Ser | |
| NM_004014.2:c.1138G>T | NP_004005.1:p.Ala380Ser | |
| NM_004015.2:c.121G>T | NP_004006.1:p.Ala41Ser | |
| NM_004016.2:c.121G>T | NP_004007.1:p.Ala41Ser | |
| NM_004017.2:c.121G>T | NP_004008.1:p.Ala41Ser | |
| NM_004018.2:c.121G>T | NP_004009.1:p.Ala41Ser | |
| NM_004019.2:c.121G>T | NP_004010.1:p.Ala41Ser | |
| NM_004020.3:c.1945G>T | NP_004011.2:p.Ala649Ser | |
| NM_004021.2:c.1945G>T | NP_004012.1:p.Ala649Ser | |
| NM_004022.2:c.1945G>T | NP_004013.1:p.Ala649Ser | |
| NM_004023.2:c.1945G>T | NP_004014.1:p.Ala649Ser | |
| XM_006724468.2:c.9325G>T | XP_006724531.1:p.Ala3109Ser | |
| XM_006724469.2:c.9301G>T | XP_006724532.1:p.Ala3101Ser | |
| XM_006724470.2:c.9325G>T | XP_006724533.1:p.Ala3109Ser | |
| XM_006724471.2:c.9325G>T | XP_006724534.1:p.Ala3109Ser | |
| XM_006724472.2:c.9196G>T | XP_006724535.1:p.Ala3066Ser | |
| XM_006724473.2:c.9187G>T | XP_006724536.1:p.Ala3063Ser | |
| XM_006724474.2:c.9325G>T | XP_006724537.1:p.Ala3109Ser | |
| XM_006724475.2:c.9325G>T | XP_006724538.1:p.Ala3109Ser | |
| XM_011545467.1:c.9202G>T | XP_011543769.1:p.Ala3068Ser | |
| XM_011545468.1:c.9325G>T | XP_011543770.1:p.Ala3109Ser | |
| XM_006724469.3:c.9301G>T | XP_006724532.1:p.Ala3101Ser | |
| XM_006724470.3:c.9325G>T | XP_006724533.1:p.Ala3109Ser | |
| XM_006724474.3:c.9325G>T | XP_006724537.1:p.Ala3109Ser | |
| XM_011545468.2:c.9325G>T | XP_011543770.1:p.Ala3109Ser | |
| XM_017029328.1:c.9325G>T | XP_016884817.1:p.Ala3109Ser | |
| XM_017029331.1:c.3499G>T | XP_016884820.1:p.Ala1167Ser | |
| NM_000109.4:c.9301G>T | NP_000100.3:p.Ala3101Ser | |
| NM_004006.3:c.9325G>T MANE Select | NP_003997.2:p.Ala3109Ser | |
| NM_004011.4:c.5302G>T | NP_004002.3:p.Ala1768Ser | |
| NM_004012.4:c.5293G>T | NP_004003.2:p.Ala1765Ser | |
| NM_004015.3:c.121G>T | NP_004006.1:p.Ala41Ser | |
| NM_004016.3:c.121G>T | NP_004007.1:p.Ala41Ser | |
| NM_004017.3:c.121G>T | NP_004008.1:p.Ala41Ser | |
| NM_004018.3:c.121G>T | NP_004009.1:p.Ala41Ser | |
| NM_004019.3:c.121G>T | NP_004010.1:p.Ala41Ser | |
| NM_004021.3:c.1945G>T | NP_004012.2:p.Ala649Ser | |
| NM_004023.3:c.1945G>T | NP_004014.2:p.Ala649Ser | |
| NM_004013.3:c.1945G>T | NP_004004.2:p.Ala649Ser | |
| NM_004014.3:c.1138G>T | NP_004005.2:p.Ala380Ser | |
| NM_004020.4:c.1945G>T | NP_004011.3:p.Ala649Ser | |
| NM_004022.3:c.1945G>T | NP_004013.2:p.Ala649Ser |