Linked Data
ClinVar Variation Id:
582481
ClinVar RCV Id:
RCV000706564
dbSNP Id:
rs1561465310
gnomAD v4:
5-13866223-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13866223A>C , CM000667.2:g.13866223A>C | GRCh38 |
| NC_000005.9:g.13866332A>C , CM000667.1:g.13866332A>C | GRCh37 |
| NC_000005.8:g.13919332A>C | NCBI36 |
| NG_013081.1:g.83258T>G | |
| NG_013081.2:g.83258T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.4113T>G MANE Select | ENSP00000265104.4:p.Phe1371Leu | |
| ENST00000681290.1:c.4068T>G | ENSP00000505288.1:p.Phe1356Leu | |
| ENST00000265104.4:c.4113T>G | ENSP00000265104.4:p.Phe1371Leu | |
| NM_001369.2:c.4113T>G | NP_001360.1:p.Phe1371Leu | |
| XM_005248262.2:c.4068T>G | XP_005248319.1:p.Phe1356Leu | |
| XM_011513990.1:c.4113T>G | XP_011512292.1:p.Phe1371Leu | |
| XR_925598.1:n.4320T>G | ||
| XM_005248262.3:c.4221T>G | XP_005248319.2:p.Phe1407Leu | |
| XM_017009177.1:c.4221T>G | XP_016864666.1:p.Phe1407Leu | |
| XM_017009178.1:c.3126T>G | XP_016864667.1:p.Phe1042Leu | |
| XM_017009179.2:c.3126T>G | XP_016864668.1:p.Phe1042Leu | |
| XM_017009180.1:c.4221T>G | XP_016864669.1:p.Phe1407Leu | |
| XM_017009181.1:c.4221T>G | XP_016864670.1:p.Phe1407Leu | |
| XM_017009182.1:c.4221T>G | XP_016864671.1:p.Phe1407Leu | |
| XM_017009183.1:c.4221T>G | XP_016864672.1:p.Phe1407Leu | |
| XM_017009184.1:c.4221T>G | XP_016864673.1:p.Phe1407Leu | |
| XM_017009187.1:c.4221T>G | XP_016864676.1:p.Phe1407Leu | |
| XM_024454388.1:c.3126T>G | XP_024310156.1:p.Phe1042Leu | |
| XM_024454389.1:c.2715T>G | XP_024310157.1:p.Phe905Leu | |
| XR_001742034.1:n.4238T>G | ||
| XR_001742035.1:n.4238T>G | ||
| NM_001369.3:c.4113T>G MANE Select | NP_001360.1:p.Phe1371Leu |