Linked Data
ClinVar Variation Id:
2043028
ClinVar RCV Id:
RCV002908381
dbSNP Id:
rs1263317922
gnomAD v2:
5-13781054-A-C
gnomAD v3:
5-13780945-A-C
gnomAD v4:
5-13780945-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13780945A>C , CM000667.2:g.13780945A>C | GRCh38 |
| NC_000005.9:g.13781054A>C , CM000667.1:g.13781054A>C | GRCh37 |
| NC_000005.8:g.13834054A>C | NCBI36 |
| NG_013081.1:g.168536T>G | |
| NG_013081.2:g.168536T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.8835T>G MANE Select | ENSP00000265104.4:p.Ile2945Met | |
| ENST00000681290.1:c.8790T>G | ENSP00000505288.1:p.Ile2930Met | |
| ENST00000265104.4:c.8835T>G | ENSP00000265104.4:p.Ile2945Met | |
| NM_001369.2:c.8835T>G | NP_001360.1:p.Ile2945Met | |
| XM_005248262.2:c.8790T>G | XP_005248319.1:p.Ile2930Met | |
| XM_011513990.1:c.8835T>G | XP_011512292.1:p.Ile2945Met | |
| XR_925598.1:n.9028-3590T>G | ||
| XM_005248262.3:c.8943T>G | XP_005248319.2:p.Ile2981Met | |
| XM_017009177.1:c.8943T>G | XP_016864666.1:p.Ile2981Met | |
| XM_017009178.1:c.7848T>G | XP_016864667.1:p.Ile2616Met | |
| XM_017009179.2:c.7848T>G | XP_016864668.1:p.Ile2616Met | |
| XM_017009180.1:c.8943T>G | XP_016864669.1:p.Ile2981Met | |
| XM_017009181.1:c.8943T>G | XP_016864670.1:p.Ile2981Met | |
| XM_017009182.1:c.8943T>G | XP_016864671.1:p.Ile2981Met | |
| XM_017009183.1:c.8943T>G | XP_016864672.1:p.Ile2981Met | |
| XM_017009184.1:c.8943T>G | XP_016864673.1:p.Ile2981Met | |
| XM_017009185.1:c.4032T>G | XP_016864674.1:p.Ile1344Met | |
| XM_017009186.1:c.3585T>G | XP_016864675.1:p.Ile1195Met | |
| XM_017009188.1:c.2922T>G | XP_016864677.1:p.Ile974Met | |
| XM_024454388.1:c.7848T>G | XP_024310156.1:p.Ile2616Met | |
| XM_024454389.1:c.7437T>G | XP_024310157.1:p.Ile2479Met | |
| XR_001742034.1:n.8946-3590T>G | ||
| XR_001742035.1:n.8946-3590T>G | ||
| NM_001369.3:c.8835T>G MANE Select | NP_001360.1:p.Ile2945Met |