Linked Data
ClinVar Variation Id:
407222
dbSNP Id:
rs187551830
ExAC:
5:13809217 A / C
gnomAD v2:
5-13809217-A-C
gnomAD v3:
5-13809108-A-C
gnomAD v4:
5-13809108-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13809108A>C , CM000667.2:g.13809108A>C | GRCh38 |
| NC_000005.9:g.13809217A>C , CM000667.1:g.13809217A>C | GRCh37 |
| NC_000005.8:g.13862217A>C | NCBI36 |
| NG_013081.1:g.140373T>G | |
| NG_013081.2:g.140373T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.7688T>G MANE Select | ENSP00000265104.4:p.Leu2563Arg | |
| ENST00000681290.1:c.7643T>G | ENSP00000505288.1:p.Leu2548Arg | |
| ENST00000265104.4:c.7688T>G | ENSP00000265104.4:p.Leu2563Arg | |
| ENST00000512443.1:n.544T>G | ||
| NM_001369.2:c.7688T>G | NP_001360.1:p.Leu2563Arg | |
| XM_005248262.2:c.7643T>G | XP_005248319.1:p.Leu2548Arg | |
| XM_011513990.1:c.7688T>G | XP_011512292.1:p.Leu2563Arg | |
| XR_925598.1:n.7895T>G | ||
| XM_005248262.3:c.7796T>G | XP_005248319.2:p.Leu2599Arg | |
| XM_017009177.1:c.7796T>G | XP_016864666.1:p.Leu2599Arg | |
| XM_017009178.1:c.6701T>G | XP_016864667.1:p.Leu2234Arg | |
| XM_017009179.2:c.6701T>G | XP_016864668.1:p.Leu2234Arg | |
| XM_017009180.1:c.7796T>G | XP_016864669.1:p.Leu2599Arg | |
| XM_017009181.1:c.7796T>G | XP_016864670.1:p.Leu2599Arg | |
| XM_017009182.1:c.7796T>G | XP_016864671.1:p.Leu2599Arg | |
| XM_017009183.1:c.7796T>G | XP_016864672.1:p.Leu2599Arg | |
| XM_017009184.1:c.7796T>G | XP_016864673.1:p.Leu2599Arg | |
| XM_017009185.1:c.2885T>G | XP_016864674.1:p.Leu962Arg | |
| XM_017009186.1:c.2438T>G | XP_016864675.1:p.Leu813Arg | |
| XM_017009187.1:c.7796T>G | XP_016864676.1:p.Leu2599Arg | |
| XM_017009188.1:c.1775T>G | XP_016864677.1:p.Leu592Arg | |
| XM_024454388.1:c.6701T>G | XP_024310156.1:p.Leu2234Arg | |
| XM_024454389.1:c.6290T>G | XP_024310157.1:p.Leu2097Arg | |
| XR_001742034.1:n.7813T>G | ||
| XR_001742035.1:n.7813T>G | ||
| NM_001369.3:c.7688T>G MANE Select | NP_001360.1:p.Leu2563Arg |