Linked Data
ClinVar Variation Id:
493234
ClinVar RCV Id:
RCV000585277
dbSNP Id:
rs1555685314
gnomAD v4:
18-37565568-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.37565568C>T , CM000680.2:g.37565568C>T | GRCh38 |
| NC_000018.9:g.35145531C>T , CM000680.1:g.35145531C>T | GRCh37 |
| NC_000018.8:g.33399529C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420428.7:c.74G>A MANE Select | ENSP00000410584.2:p.Ser25Asn | |
| ENST00000334919.9:c.74G>A | ENSP00000335631.4:p.Ser25Asn | |
| ENST00000361795.9:c.74G>A | ENSP00000355089.4:p.Ser25Asn | |
| ENST00000420428.6:c.74G>A | ENSP00000410584.2:p.Ser25Asn | |
| ENST00000587449.1:n.41G>A | ||
| ENST00000588597.5:c.74G>A | ENSP00000468109.1:p.Ser25Asn | |
| ENST00000591282.5:c.74G>A | ENSP00000464794.1:p.Ser25Asn | |
| ENST00000591287.5:c.74G>A | ENSP00000464917.1:p.Ser25Asn | |
| ENST00000601019.5:c.74G>A | ENSP00000469627.1:p.Ser25Asn | |
| ENST00000601392.5:c.74G>A | ENSP00000470649.1:p.Ser25Asn | |
| ENST00000603232.6:c.74G>A | ENSP00000474788.2:p.Ser25Asn | |
| NM_001025087.1:c.74G>A | NP_001020258.1:p.Ser25Asn | |
| NM_001025088.1:c.74G>A | NP_001020259.1:p.Ser25Asn | |
| NM_001025089.1:c.74G>A | NP_001020260.1:p.Ser25Asn | |
| NM_020180.3:c.74G>A | NP_064565.1:p.Ser25Asn | |
| XM_005258308.2:c.74G>A | XP_005258365.1:p.Ser25Asn | |
| XM_011526079.1:c.74G>A | XP_011524381.1:p.Ser25Asn | |
| XM_011526080.1:c.74G>A | XP_011524382.1:p.Ser25Asn | |
| XM_011526081.1:c.74G>A | XP_011524383.1:p.Ser25Asn | |
| XM_011526082.1:c.74G>A | XP_011524384.1:p.Ser25Asn | |
| XM_011526083.1:c.74G>A | XP_011524385.1:p.Ser25Asn | |
| XM_011526084.1:c.74G>A | XP_011524386.1:p.Ser25Asn | |
| XM_011526085.1:c.74G>A | XP_011524387.1:p.Ser25Asn | |
| XM_011526086.1:c.74G>A | XP_011524388.1:p.Ser25Asn | |
| XM_011526087.1:c.74G>A | XP_011524389.1:p.Ser25Asn | |
| XM_011526088.1:c.74G>A | XP_011524390.1:p.Ser25Asn | |
| XM_011526089.1:c.74G>A | XP_011524391.1:p.Ser25Asn | |
| XM_011526090.1:c.74G>A | XP_011524392.1:p.Ser25Asn | |
| XM_011526091.1:c.74G>A | XP_011524393.1:p.Ser25Asn | |
| XM_011526092.1:c.74G>A | XP_011524394.1:p.Ser25Asn | |
| XM_011526093.1:c.74G>A | XP_011524395.1:p.Ser25Asn | |
| XR_935233.1:n.246G>A | ||
| NM_001330603.1:c.74G>A | NP_001317532.1:p.Ser25Asn | |
| NM_001353695.1:c.74G>A | NP_001340624.1:p.Ser25Asn | |
| NM_001353696.1:c.74G>A | NP_001340625.1:p.Ser25Asn | |
| NM_001353697.1:c.74G>A | NP_001340626.1:p.Ser25Asn | |
| NM_001353698.1:c.74G>A | NP_001340627.1:p.Ser25Asn | |
| NM_001353699.1:c.74G>A | NP_001340628.1:p.Ser25Asn | |
| NM_001353700.1:c.74G>A | NP_001340629.1:p.Ser25Asn | |
| NM_001353701.1:c.74G>A | NP_001340630.1:p.Ser25Asn | |
| NM_001353702.1:c.74G>A | NP_001340631.1:p.Ser25Asn | |
| NM_001353703.1:c.74G>A | NP_001340632.1:p.Ser25Asn | |
| NM_001353705.1:c.74G>A | NP_001340634.1:p.Ser25Asn | |
| NM_001353706.1:c.74G>A | NP_001340635.1:p.Ser25Asn | |
| NM_001353707.1:c.74G>A | NP_001340636.1:p.Ser25Asn | |
| NM_001353708.1:c.74G>A | NP_001340637.1:p.Ser25Asn | |
| NM_001353709.1:c.74G>A | NP_001340638.1:p.Ser25Asn | |
| NM_001353710.1:c.74G>A | NP_001340639.1:p.Ser25Asn | |
| NM_001353711.1:c.74G>A | NP_001340640.1:p.Ser25Asn | |
| NM_001353712.1:c.74G>A | NP_001340641.1:p.Ser25Asn | |
| NM_001353713.1:c.74G>A | NP_001340642.1:p.Ser25Asn | |
| NM_001353714.1:c.74G>A | NP_001340643.1:p.Ser25Asn | |
| NM_001353715.1:c.74G>A | NP_001340644.1:p.Ser25Asn | |
| NM_001353716.1:c.74G>A | NP_001340645.1:p.Ser25Asn | |
| NM_001353717.1:c.74G>A | NP_001340646.1:p.Ser25Asn | |
| NM_001353718.1:c.74G>A | NP_001340647.1:p.Ser25Asn | |
| NM_001353719.1:c.74G>A | NP_001340648.1:p.Ser25Asn | |
| NM_001353720.1:c.74G>A | NP_001340649.1:p.Ser25Asn | |
| NM_001353721.1:c.74G>A | NP_001340650.1:p.Ser25Asn | |
| NM_001353722.1:c.74G>A | NP_001340651.1:p.Ser25Asn | |
| NM_001353723.1:c.74G>A | NP_001340652.1:p.Ser25Asn | |
| NM_001353724.1:c.74G>A | NP_001340653.1:p.Ser25Asn | |
| NM_001353725.1:c.74G>A | NP_001340654.1:p.Ser25Asn | |
| NM_001353726.1:c.74G>A | NP_001340655.1:p.Ser25Asn | |
| NM_001353727.1:c.74G>A | NP_001340656.1:p.Ser25Asn | |
| NM_001353728.1:c.74G>A | NP_001340657.1:p.Ser25Asn | |
| NM_001353729.1:c.74G>A | NP_001340658.1:p.Ser25Asn | |
| NM_001353730.1:c.74G>A | NP_001340659.1:p.Ser25Asn | |
| NM_001353731.1:c.74G>A | NP_001340660.1:p.Ser25Asn | |
| NM_001353732.1:c.74G>A | NP_001340661.1:p.Ser25Asn | |
| NM_001353733.1:c.74G>A | NP_001340662.1:p.Ser25Asn | |
| NM_001353734.1:c.74G>A | NP_001340663.1:p.Ser25Asn | |
| NM_001353735.1:c.74G>A | NP_001340664.1:p.Ser25Asn | |
| NM_001353736.1:c.74G>A | NP_001340665.1:p.Ser25Asn | |
| NM_001353737.1:c.74G>A | NP_001340666.1:p.Ser25Asn | |
| NM_001353738.1:c.74G>A | NP_001340667.1:p.Ser25Asn | |
| NM_001353739.1:c.74G>A | NP_001340668.1:p.Ser25Asn | |
| NM_001353740.1:c.74G>A | NP_001340669.1:p.Ser25Asn | |
| NM_001353741.1:c.74G>A | NP_001340670.1:p.Ser25Asn | |
| NM_001353742.1:c.74G>A | NP_001340671.1:p.Ser25Asn | |
| NM_001353743.1:c.74G>A | NP_001340672.1:p.Ser25Asn | |
| NM_001353744.1:c.74G>A | NP_001340673.1:p.Ser25Asn | |
| NM_001353745.1:c.74G>A | NP_001340674.1:p.Ser25Asn | |
| NM_001353746.1:c.74G>A | NP_001340675.1:p.Ser25Asn | |
| NM_001353747.1:c.74G>A | NP_001340676.1:p.Ser25Asn | |
| NM_001353748.1:c.74G>A | NP_001340677.1:p.Ser25Asn | |
| NM_001353749.1:c.74G>A | NP_001340678.1:p.Ser25Asn | |
| NM_001353750.1:c.74G>A | NP_001340679.1:p.Ser25Asn | |
| NM_001353751.1:c.74G>A | NP_001340680.1:p.Ser25Asn | |
| NM_001353752.1:c.74G>A | NP_001340681.1:p.Ser25Asn | |
| NM_001353753.1:c.74G>A | NP_001340682.1:p.Ser25Asn | |
| NM_001353754.1:c.74G>A | NP_001340683.1:p.Ser25Asn | |
| NM_001353755.1:c.74G>A | NP_001340684.1:p.Ser25Asn | |
| NR_148518.1:n.470G>A | ||
| NR_148519.1:n.470G>A | ||
| NR_148520.1:n.470G>A | ||
| NR_148521.1:n.470G>A | ||
| NR_148522.1:n.470G>A | ||
| NR_148523.1:n.470G>A | ||
| NR_148524.1:n.470G>A | ||
| NR_148525.1:n.470G>A | ||
| NR_148526.1:n.470G>A | ||
| NR_148527.1:n.470G>A | ||
| NR_148528.1:n.470G>A | ||
| XM_011526079.3:c.74G>A | XP_011524381.1:p.Ser25Asn | |
| XM_011526081.3:c.74G>A | XP_011524383.1:p.Ser25Asn | |
| XM_011526083.3:c.74G>A | XP_011524385.1:p.Ser25Asn | |
| XM_011526085.3:c.74G>A | XP_011524387.1:p.Ser25Asn | |
| XM_011526087.3:c.74G>A | XP_011524389.1:p.Ser25Asn | |
| XM_017025846.2:c.74G>A | XP_016881335.1:p.Ser25Asn | |
| XM_017025854.2:c.74G>A | XP_016881343.1:p.Ser25Asn | |
| XM_024451221.1:c.74G>A | XP_024306989.1:p.Ser25Asn | |
| XM_024451222.1:c.74G>A | XP_024306990.1:p.Ser25Asn | |
| XM_024451223.1:c.74G>A | XP_024306991.1:p.Ser25Asn | |
| XR_002958181.1:n.231G>A | ||
| XR_002958182.1:n.231G>A | ||
| NM_020180.4:c.74G>A MANE Select | NP_064565.1:p.Ser25Asn | |
| NM_001025087.2:c.74G>A | NP_001020258.1:p.Ser25Asn | |
| NM_001025088.2:c.74G>A | NP_001020259.1:p.Ser25Asn | |
| NM_001025089.2:c.74G>A | NP_001020260.1:p.Ser25Asn | |
| NM_001330603.2:c.74G>A | NP_001317532.1:p.Ser25Asn | |
| NM_001353695.2:c.74G>A | NP_001340624.1:p.Ser25Asn | |
| NM_001353696.2:c.74G>A | NP_001340625.1:p.Ser25Asn | |
| NM_001353697.2:c.74G>A | NP_001340626.1:p.Ser25Asn | |
| NM_001353698.2:c.74G>A | NP_001340627.1:p.Ser25Asn | |
| NM_001353699.2:c.74G>A | NP_001340628.1:p.Ser25Asn | |
| NM_001353700.2:c.74G>A | NP_001340629.1:p.Ser25Asn | |
| NM_001353701.2:c.74G>A | NP_001340630.1:p.Ser25Asn | |
| NM_001353702.2:c.74G>A | NP_001340631.1:p.Ser25Asn | |
| NM_001353703.2:c.74G>A | NP_001340632.1:p.Ser25Asn | |
| NM_001353705.2:c.74G>A | NP_001340634.1:p.Ser25Asn | |
| NM_001353706.2:c.74G>A | NP_001340635.1:p.Ser25Asn | |
| NM_001353707.2:c.74G>A | NP_001340636.1:p.Ser25Asn | |
| NM_001353708.2:c.74G>A | NP_001340637.1:p.Ser25Asn | |
| NM_001353709.2:c.74G>A | NP_001340638.1:p.Ser25Asn | |
| NM_001353710.2:c.74G>A | NP_001340639.1:p.Ser25Asn | |
| NM_001353711.2:c.74G>A | NP_001340640.1:p.Ser25Asn | |
| NM_001353712.2:c.74G>A | NP_001340641.1:p.Ser25Asn | |
| NM_001353713.2:c.74G>A | NP_001340642.1:p.Ser25Asn | |
| NM_001353714.2:c.74G>A | NP_001340643.1:p.Ser25Asn | |
| NM_001353715.2:c.74G>A | NP_001340644.1:p.Ser25Asn | |
| NM_001353716.2:c.74G>A | NP_001340645.1:p.Ser25Asn | |
| NM_001353717.2:c.74G>A | NP_001340646.1:p.Ser25Asn | |
| NM_001353718.2:c.74G>A | NP_001340647.1:p.Ser25Asn | |
| NM_001353719.2:c.74G>A | NP_001340648.1:p.Ser25Asn | |
| NM_001353720.2:c.74G>A | NP_001340649.1:p.Ser25Asn | |
| NM_001353721.2:c.74G>A | NP_001340650.1:p.Ser25Asn | |
| NM_001353722.2:c.74G>A | NP_001340651.1:p.Ser25Asn | |
| NM_001353723.2:c.74G>A | NP_001340652.1:p.Ser25Asn | |
| NM_001353724.2:c.74G>A | NP_001340653.1:p.Ser25Asn | |
| NM_001353725.2:c.74G>A | NP_001340654.1:p.Ser25Asn | |
| NM_001353726.2:c.74G>A | NP_001340655.1:p.Ser25Asn | |
| NM_001353727.2:c.74G>A | NP_001340656.1:p.Ser25Asn | |
| NM_001353728.2:c.74G>A | NP_001340657.1:p.Ser25Asn | |
| NM_001353729.2:c.74G>A | NP_001340658.1:p.Ser25Asn | |
| NM_001353730.2:c.74G>A | NP_001340659.1:p.Ser25Asn | |
| NM_001353731.2:c.74G>A | NP_001340660.1:p.Ser25Asn | |
| NM_001353732.2:c.74G>A | NP_001340661.1:p.Ser25Asn | |
| NM_001353733.2:c.74G>A | NP_001340662.1:p.Ser25Asn | |
| NM_001353734.2:c.74G>A | NP_001340663.1:p.Ser25Asn | |
| NM_001353735.2:c.74G>A | NP_001340664.1:p.Ser25Asn | |
| NM_001353736.2:c.74G>A | NP_001340665.1:p.Ser25Asn | |
| NM_001353737.2:c.74G>A | NP_001340666.1:p.Ser25Asn | |
| NM_001353738.2:c.74G>A | NP_001340667.1:p.Ser25Asn | |
| NM_001353739.2:c.74G>A | NP_001340668.1:p.Ser25Asn | |
| NM_001353740.2:c.74G>A | NP_001340669.1:p.Ser25Asn | |
| NM_001353741.2:c.74G>A | NP_001340670.1:p.Ser25Asn | |
| NM_001353742.2:c.74G>A | NP_001340671.1:p.Ser25Asn | |
| NM_001353743.2:c.74G>A | NP_001340672.1:p.Ser25Asn | |
| NM_001353744.2:c.74G>A | NP_001340673.1:p.Ser25Asn | |
| NM_001353745.2:c.74G>A | NP_001340674.1:p.Ser25Asn | |
| NM_001353746.2:c.74G>A | NP_001340675.1:p.Ser25Asn | |
| NM_001353747.2:c.74G>A | NP_001340676.1:p.Ser25Asn | |
| NM_001353748.2:c.74G>A | NP_001340677.1:p.Ser25Asn | |
| NM_001353749.2:c.74G>A | NP_001340678.1:p.Ser25Asn | |
| NM_001353750.2:c.74G>A | NP_001340679.1:p.Ser25Asn | |
| NM_001353751.2:c.74G>A | NP_001340680.1:p.Ser25Asn | |
| NM_001353752.2:c.74G>A | NP_001340681.1:p.Ser25Asn | |
| NM_001353753.2:c.74G>A | NP_001340682.1:p.Ser25Asn | |
| NM_001353754.2:c.74G>A | NP_001340683.1:p.Ser25Asn | |
| NM_001353755.2:c.74G>A | NP_001340684.1:p.Ser25Asn | |
| NR_148518.2:n.231G>A | ||
| NR_148519.2:n.231G>A | ||
| NR_148520.2:n.231G>A | ||
| NR_148521.2:n.231G>A | ||
| NR_148522.2:n.231G>A | ||
| NR_148523.2:n.231G>A | ||
| NR_148524.2:n.231G>A | ||
| NR_148525.2:n.231G>A | ||
| NR_148526.2:n.231G>A | ||
| NR_148527.2:n.231G>A | ||
| NR_148528.2:n.231G>A |