Linked Data
ClinVar Variation Id:
2510953
ClinVar RCV Id:
RCV004288290
dbSNP Id:
rs112124692
ExAC:
5:13871060 A / C
gnomAD v2:
5-13871060-A-C
gnomAD v3:
5-13870951-A-C
gnomAD v4:
5-13870951-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13870951A>C , CM000667.2:g.13870951A>C | GRCh38 |
| NC_000005.9:g.13871060A>C , CM000667.1:g.13871060A>C | GRCh37 |
| NC_000005.8:g.13924060A>C | NCBI36 |
| NG_013081.1:g.78530T>G | |
| NG_013081.2:g.78530T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.3650T>G MANE Select | ENSP00000265104.4:p.Ile1217Ser | |
| ENST00000681290.1:c.3605T>G | ENSP00000505288.1:p.Ile1202Ser | |
| ENST00000265104.4:c.3650T>G | ENSP00000265104.4:p.Ile1217Ser | |
| NM_001369.2:c.3650T>G | NP_001360.1:p.Ile1217Ser | |
| XM_005248262.2:c.3605T>G | XP_005248319.1:p.Ile1202Ser | |
| XM_011513990.1:c.3650T>G | XP_011512292.1:p.Ile1217Ser | |
| XR_925598.1:n.3857T>G | ||
| XM_005248262.3:c.3758T>G | XP_005248319.2:p.Ile1253Ser | |
| XM_017009177.1:c.3758T>G | XP_016864666.1:p.Ile1253Ser | |
| XM_017009178.1:c.2663T>G | XP_016864667.1:p.Ile888Ser | |
| XM_017009179.2:c.2663T>G | XP_016864668.1:p.Ile888Ser | |
| XM_017009180.1:c.3758T>G | XP_016864669.1:p.Ile1253Ser | |
| XM_017009181.1:c.3758T>G | XP_016864670.1:p.Ile1253Ser | |
| XM_017009182.1:c.3758T>G | XP_016864671.1:p.Ile1253Ser | |
| XM_017009183.1:c.3758T>G | XP_016864672.1:p.Ile1253Ser | |
| XM_017009184.1:c.3758T>G | XP_016864673.1:p.Ile1253Ser | |
| XM_017009187.1:c.3758T>G | XP_016864676.1:p.Ile1253Ser | |
| XM_024454388.1:c.2663T>G | XP_024310156.1:p.Ile888Ser | |
| XM_024454389.1:c.2252T>G | XP_024310157.1:p.Ile751Ser | |
| XR_001742034.1:n.3775T>G | ||
| XR_001742035.1:n.3775T>G | ||
| NM_001369.3:c.3650T>G MANE Select | NP_001360.1:p.Ile1217Ser |