Linked Data
dbSNP Id:
rs10756819
gnomAD v2:
9-16858084-G-A
gnomAD v3:
9-16858086-G-A
gnomAD v4:
9-16858086-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.16858086G>A , CM000671.2:g.16858086G>A | GRCh38 |
| NC_000009.11:g.16858084G>A , CM000671.1:g.16858084G>A | GRCh37 |
| NC_000009.10:g.16848084G>A | NCBI36 |
| NG_051226.1:g.17753C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380672.9:c.3+12560C>T MANE Select | ENSP00000370047.3:n.3+12560C>T | |
| ENST00000380666.6:c.-106+9863C>T | ENSP00000370041.3:n.-106+9863C>T | |
| ENST00000380667.6:c.3+12560C>T | ENSP00000370042.1:n.3+12560C>T | |
| ENST00000380672.8:c.3+12560C>T | ENSP00000370047.3:n.3+12560C>T | |
| ENST00000484726.5:c.3+12560C>T | ENSP00000431516.1:n.3+12560C>T | |
| ENST00000486514.5:c.3+12560C>T | ENSP00000474647.1:n.3+12560C>T | |
| ENST00000545497.5:c.-394+12560C>T | ENSP00000444640.2:n.-394+12560C>T | |
| ENST00000613349.4:c.-106+9273C>T | ENSP00000477717.1:n.-106+9273C>T | |
| ENST00000617779.1:c.-232+9273C>T | ENSP00000482793.1:n.-232+9273C>T | |
| NM_017637.5:c.3+12560C>T | NP_060107.3:n.3+12560C>T | |
| XM_011517921.1:c.3+12560C>T | XP_011516223.1:n.3+12560C>T | |
| XM_011517922.1:c.-63+12560C>T | XP_011516224.1:n.-63+12560C>T | |
| XM_011517923.1:c.-63+12560C>T | XP_011516225.1:n.-63+12560C>T | |
| XM_011517924.1:c.3+12560C>T | XP_011516226.1:n.3+12560C>T | |
| XM_011517926.1:c.3+12560C>T | XP_011516228.1:n.3+12560C>T | |
| XM_011517928.1:c.-63+12560C>T | XP_011516230.1:n.-63+12560C>T | |
| XM_011517933.1:c.3+12560C>T | XP_011516235.1:n.3+12560C>T | |
| NM_001317939.1:c.3+12560C>T | NP_001304868.1:n.3+12560C>T | |
| NM_001317940.1:c.-63+12560C>T | NP_001304869.1:n.-63+12560C>T | |
| XM_011517924.2:c.3+12560C>T | XP_011516226.1:n.3+12560C>T | |
| NM_017637.6:c.3+12560C>T MANE Select | NP_060107.3:n.3+12560C>T | |
| NM_001317939.2:c.3+12560C>T | NP_001304868.1:n.3+12560C>T | |
| NM_001317940.2:c.-63+12560C>T | NP_001304869.1:n.-63+12560C>T |