Linked Data
dbSNP Id:
rs2515475
gnomAD v2:
8-6388439-C-T
gnomAD v3:
8-6530918-C-T
gnomAD v4:
8-6530918-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.6530918C>T , CM000670.2:g.6530918C>T | GRCh38 |
| NC_000008.10:g.6388439C>T , CM000670.1:g.6388439C>T | GRCh37 |
| NC_000008.9:g.6375847C>T | NCBI36 |
| NG_016619.1:g.129327C>T | |
| NG_029483.1:g.37346G>A | |
| NG_016619.2:g.129327C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000519221.6:n.440+30989C>T (MCPH1) | ||
| ENST00000521129.2:c.261+30989C>T (MCPH1) | ENSP00000509664.1:n.261+30989C>T | |
| ENST00000521175.2:n.937+30989C>T (MCPH1) | ||
| ENST00000687324.1:n.1152+30989C>T (MCPH1) | ||
| ENST00000687413.1:c.303+30989C>T (MCPH1) | ENSP00000510583.1:n.303+30989C>T | |
| ENST00000687720.1:c.*2162+30989C>T (MCPH1) | ENSP00000510728.1:n.*2162+30989C>T | |
| ENST00000688101.1:c.2371+30989C>T (MCPH1) | ||
| ENST00000688388.1:c.*203+30989C>T (MCPH1) | ENSP00000510092.1:n.*203+30989C>T | |
| ENST00000689148.1:n.1174+30989C>T (MCPH1) | ||
| ENST00000689348.1:c.2214+30989C>T (MCPH1) | ENSP00000509554.1:n.2214+30989C>T | |
| ENST00000689633.1:c.1935+75666C>T (MCPH1) | ENSP00000509054.1:n.1935+75666C>T | |
| ENST00000689736.1:c.858+30989C>T (MCPH1) | ENSP00000509722.1:n.858+30989C>T | |
| ENST00000690159.1:c.*2493+30989C>T (MCPH1) | ENSP00000510482.1:n.*2493+30989C>T | |
| ENST00000690708.1:c.1059+30989C>T (MCPH1) | ENSP00000510400.1:n.1059+30989C>T | |
| ENST00000690826.1:c.2214+30989C>T (MCPH1) | ENSP00000510536.1:n.2214+30989C>T | |
| ENST00000691435.1:c.2215-14544C>T (MCPH1) | ENSP00000510652.1:n.2215-14544C>T | |
| ENST00000692836.1:c.2214+30989C>T (MCPH1) | ENSP00000509971.1:n.2214+30989C>T | |
| ENST00000692938.1:c.2214+30989C>T (MCPH1) | ENSP00000509072.1:n.2214+30989C>T | |
| ENST00000693231.1:c.*1675+75666C>T (MCPH1) | ENSP00000510764.1:n.*1675+75666C>T | |
| ENST00000344683.10:c.2214+30989C>T (MCPH1) MANE Select | ENSP00000342924.5:n.2214+30989C>T | |
| ENST00000629816.3:c.444+1414G>A (ANGPT2) MANE Select | ENSP00000486858.2:n.444+1414G>A | |
| ENST00000325203.9:c.444+1414G>A (ANGPT2) | ENSP00000314897.5:n.444+1414G>A | |
| ENST00000338312.10:c.289-3242G>A (ANGPT2) | ENSP00000343517.6:n.289-3242G>A | |
| ENST00000344683.9:c.2214+30989C>T (MCPH1) | ENSP00000342924.5:n.2214+30989C>T | |
| ENST00000519221.5:n.321+30989C>T (MCPH1) | ||
| ENST00000521129.1:n.372+30989C>T (MCPH1) | ||
| ENST00000523120.2:c.444+1414G>A (ANGPT2) | ENSP00000428023.1:n.444+1414G>A | |
| ENST00000629816.2:c.444+1414G>A (ANGPT2) | ENSP00000486858.1:n.444+1414G>A | |
| NM_001118887.1:c.444+1414G>A (ANGPT2) | NP_001112359.1:n.444+1414G>A | |
| NM_001118888.1:c.289-3242G>A (ANGPT2) | NP_001112360.1:n.289-3242G>A | |
| NM_001147.2:c.444+1414G>A (ANGPT2) | NP_001138.1:n.444+1414G>A | |
| NM_024596.3:c.2214+30989C>T (MCPH1) | NP_078872.2:n.2214+30989C>T | |
| XM_011534755.1:c.2214+30989C>T (MCPH1) | XP_011533057.1:n.2214+30989C>T | |
| XM_011534756.1:c.2215-24348C>T (MCPH1) | XP_011533058.1:n.2215-24348C>T | |
| XM_011534757.1:c.2215-30938C>T (MCPH1) | XP_011533059.1:n.2215-30938C>T | |
| XM_011534759.1:c.2215-14544C>T (MCPH1) | XP_011533061.1:n.2215-14544C>T | |
| XM_011534760.1:c.1689+30989C>T (MCPH1) | XP_011533062.1:n.1689+30989C>T | |
| NM_001322042.1:c.2214+30989C>T (MCPH1) | NP_001308971.1:n.2214+30989C>T | |
| NM_001363979.1:c.2214+30989C>T (MCPH1) | NP_001350908.1:n.2214+30989C>T | |
| NM_001363980.1:c.1935+75666C>T (MCPH1) | NP_001350909.1:n.1935+75666C>T | |
| NM_024596.4:c.2214+30989C>T (MCPH1) | NP_078872.2:n.2214+30989C>T | |
| XM_011534755.3:c.2214+30989C>T (MCPH1) | XP_011533057.1:n.2214+30989C>T | |
| XM_011534756.3:c.2215-24348C>T (MCPH1) | XP_011533058.1:n.2215-24348C>T | |
| XM_011534757.3:c.2215-30938C>T (MCPH1) | XP_011533059.1:n.2215-30938C>T | |
| XM_011534759.3:c.2215-14544C>T (MCPH1) | XP_011533061.1:n.2215-14544C>T | |
| XM_011534760.2:c.1689+30989C>T (MCPH1) | XP_011533062.1:n.1689+30989C>T | |
| XM_017013318.1:c.289-3242G>A (ANGPT2) | XP_016868807.1:n.289-3242G>A | |
| XM_017013829.2:c.2214+30989C>T (MCPH1) | XP_016869318.1:n.2214+30989C>T | |
| XM_017013831.2:c.2013+30989C>T (MCPH1) | XP_016869320.1:n.2013+30989C>T | |
| XM_017013832.2:c.1935+75666C>T (MCPH1) | XP_016869321.1:n.1935+75666C>T | |
| XM_017013833.2:c.2214+30989C>T (MCPH1) | XP_016869322.1:n.2214+30989C>T | |
| XR_001745596.2:n.2267+30989C>T (MCPH1) | ||
| NM_024596.5:c.2214+30989C>T (MCPH1) MANE Select | NP_078872.3:n.2214+30989C>T | |
| NM_001118887.2:c.444+1414G>A (ANGPT2) MANE Select | NP_001112359.1:n.444+1414G>A | |
| NM_001118888.2:c.289-3242G>A (ANGPT2) | NP_001112360.1:n.289-3242G>A | |
| NM_001147.3:c.444+1414G>A (ANGPT2) | NP_001138.1:n.444+1414G>A | |
| NM_001322042.2:c.2214+30989C>T (MCPH1) | NP_001308971.2:n.2214+30989C>T | |
| NM_001363980.2:c.1935+75666C>T (MCPH1) | NP_001350909.1:n.1935+75666C>T | |
| NM_001386335.1:c.289-3242G>A (ANGPT2) | NP_001373264.1:n.289-3242G>A | |
| NM_001386336.1:c.444+1414G>A (ANGPT2) | NP_001373265.1:n.444+1414G>A | |
| NM_001386337.1:c.444+1414G>A (ANGPT2) | NP_001373266.1:n.444+1414G>A |