Linked Data
ClinVar Variation Id:
2843182
ClinVar RCV Id:
RCV003652442
dbSNP Id:
rs1750320282
gnomAD v3:
5-13752121-A-C
gnomAD v4:
5-13752121-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13752121A>C , CM000667.2:g.13752121A>C | GRCh38 |
| NC_000005.9:g.13752230A>C , CM000667.1:g.13752230A>C | GRCh37 |
| NC_000005.8:g.13805230A>C | NCBI36 |
| NG_013081.1:g.197360T>G | |
| NG_013081.2:g.197360T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.11028+13T>G MANE Select | ENSP00000265104.4:n.11028+13T>G | |
| ENST00000681290.1:c.10983+13T>G | ENSP00000505288.1:n.10983+13T>G | |
| ENST00000265104.4:c.11028+13T>G | ENSP00000265104.4:n.11028+13T>G | |
| NM_001369.2:c.11028+13T>G | NP_001360.1:n.11028+13T>G | |
| XM_005248262.2:c.10983+13T>G | XP_005248319.1:n.10983+13T>G | |
| XM_005248262.3:c.11136+13T>G | XP_005248319.2:n.11136+13T>G | |
| XM_017009177.1:c.11136+13T>G | XP_016864666.1:n.11136+13T>G | |
| XM_017009178.1:c.10041+13T>G | XP_016864667.1:n.10041+13T>G | |
| XM_017009179.2:c.10041+13T>G | XP_016864668.1:n.10041+13T>G | |
| XM_017009180.1:c.11136+13T>G | XP_016864669.1:n.11136+13T>G | |
| XM_017009181.1:c.11136+13T>G | XP_016864670.1:n.11136+13T>G | |
| XM_017009182.1:c.11136+13T>G | XP_016864671.1:n.11136+13T>G | |
| XM_017009185.1:c.6225+13T>G | XP_016864674.1:n.6225+13T>G | |
| XM_017009186.1:c.5778+13T>G | XP_016864675.1:n.5778+13T>G | |
| XM_017009188.1:c.5115+13T>G | XP_016864677.1:n.5115+13T>G | |
| XM_024454388.1:c.10041+13T>G | XP_024310156.1:n.10041+13T>G | |
| XM_024454389.1:c.9630+13T>G | XP_024310157.1:n.9630+13T>G | |
| NM_001369.3:c.11028+13T>G MANE Select | NP_001360.1:n.11028+13T>G |