Linked Data
ClinVar Variation Id:
1220332
ClinVar RCV Id:
RCV001592590
dbSNP Id:
rs115374116
gnomAD v2:
5-13752191-C-T
gnomAD v3:
5-13752082-C-T
gnomAD v4:
5-13752082-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13752082C>T , CM000667.2:g.13752082C>T | GRCh38 |
| NC_000005.9:g.13752191C>T , CM000667.1:g.13752191C>T | GRCh37 |
| NC_000005.8:g.13805191C>T | NCBI36 |
| NG_013081.1:g.197399G>A | |
| NG_013081.2:g.197399G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.11028+52G>A MANE Select | ENSP00000265104.4:n.11028+52G>A | |
| ENST00000681290.1:c.10983+52G>A | ENSP00000505288.1:n.10983+52G>A | |
| ENST00000265104.4:c.11028+52G>A | ENSP00000265104.4:n.11028+52G>A | |
| NM_001369.2:c.11028+52G>A | NP_001360.1:n.11028+52G>A | |
| XM_005248262.2:c.10983+52G>A | XP_005248319.1:n.10983+52G>A | |
| XM_005248262.3:c.11136+52G>A | XP_005248319.2:n.11136+52G>A | |
| XM_017009177.1:c.11136+52G>A | XP_016864666.1:n.11136+52G>A | |
| XM_017009178.1:c.10041+52G>A | XP_016864667.1:n.10041+52G>A | |
| XM_017009179.2:c.10041+52G>A | XP_016864668.1:n.10041+52G>A | |
| XM_017009180.1:c.11136+52G>A | XP_016864669.1:n.11136+52G>A | |
| XM_017009181.1:c.11136+52G>A | XP_016864670.1:n.11136+52G>A | |
| XM_017009182.1:c.11136+52G>A | XP_016864671.1:n.11136+52G>A | |
| XM_017009185.1:c.6225+52G>A | XP_016864674.1:n.6225+52G>A | |
| XM_017009186.1:c.5778+52G>A | XP_016864675.1:n.5778+52G>A | |
| XM_017009188.1:c.5115+52G>A | XP_016864677.1:n.5115+52G>A | |
| XM_024454388.1:c.10041+52G>A | XP_024310156.1:n.10041+52G>A | |
| XM_024454389.1:c.9630+52G>A | XP_024310157.1:n.9630+52G>A | |
| NM_001369.3:c.11028+52G>A MANE Select | NP_001360.1:n.11028+52G>A |