Linked Data
ClinVar Variation Id:
834775
ClinVar RCV Id:
RCV001035526
dbSNP Id:
rs561666802
gnomAD v3:
5-13810216-G-C
gnomAD v4:
5-13810216-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13810216G>C , CM000667.2:g.13810216G>C | GRCh38 |
| NC_000005.9:g.13810325G>C , CM000667.1:g.13810325G>C | GRCh37 |
| NC_000005.8:g.13863325G>C | NCBI36 |
| NG_013081.1:g.139265C>G | |
| NG_013081.2:g.139265C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.7452C>G MANE Select | ENSP00000265104.4:p.Phe2484Leu | |
| ENST00000681290.1:c.7407C>G | ENSP00000505288.1:p.Phe2469Leu | |
| ENST00000265104.4:c.7452C>G | ENSP00000265104.4:p.Phe2484Leu | |
| ENST00000512443.1:n.308C>G | ||
| NM_001369.2:c.7452C>G | NP_001360.1:p.Phe2484Leu | |
| XM_005248262.2:c.7407C>G | XP_005248319.1:p.Phe2469Leu | |
| XM_011513990.1:c.7452C>G | XP_011512292.1:p.Phe2484Leu | |
| XR_925598.1:n.7659C>G | ||
| XM_005248262.3:c.7560C>G | XP_005248319.2:p.Phe2520Leu | |
| XM_017009177.1:c.7560C>G | XP_016864666.1:p.Phe2520Leu | |
| XM_017009178.1:c.6465C>G | XP_016864667.1:p.Phe2155Leu | |
| XM_017009179.2:c.6465C>G | XP_016864668.1:p.Phe2155Leu | |
| XM_017009180.1:c.7560C>G | XP_016864669.1:p.Phe2520Leu | |
| XM_017009181.1:c.7560C>G | XP_016864670.1:p.Phe2520Leu | |
| XM_017009182.1:c.7560C>G | XP_016864671.1:p.Phe2520Leu | |
| XM_017009183.1:c.7560C>G | XP_016864672.1:p.Phe2520Leu | |
| XM_017009184.1:c.7560C>G | XP_016864673.1:p.Phe2520Leu | |
| XM_017009185.1:c.2649C>G | XP_016864674.1:p.Phe883Leu | |
| XM_017009186.1:c.2202C>G | XP_016864675.1:p.Phe734Leu | |
| XM_017009187.1:c.7560C>G | XP_016864676.1:p.Phe2520Leu | |
| XM_017009188.1:c.1539C>G | XP_016864677.1:p.Phe513Leu | |
| XM_024454388.1:c.6465C>G | XP_024310156.1:p.Phe2155Leu | |
| XM_024454389.1:c.6054C>G | XP_024310157.1:p.Phe2018Leu | |
| XR_001742034.1:n.7577C>G | ||
| XR_001742035.1:n.7577C>G | ||
| NM_001369.3:c.7452C>G MANE Select | NP_001360.1:p.Phe2484Leu |