Linked Data
ClinVar Variation Id:
454753
ClinVar RCV Id:
RCV000531107
dbSNP Id:
rs367877988
gnomAD v4:
5-13911419-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13911419G>C , CM000667.2:g.13911419G>C | GRCh38 |
| NC_000005.9:g.13911528G>C , CM000667.1:g.13911528G>C | GRCh37 |
| NC_000005.8:g.13964528G>C | NCBI36 |
| NG_013081.1:g.38062C>G | |
| NG_013081.2:g.38062C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000680213.2:n.1667C>G | ||
| ENST00000683011.1:n.1550C>G | ||
| ENST00000683967.1:n.3976C>G | ||
| ENST00000684013.1:n.2271C>G | ||
| ENST00000684099.1:n.2267C>G | ||
| ENST00000265104.5:c.1611C>G MANE Select | ENSP00000265104.4:p.Tyr537Ter | |
| ENST00000680213.1:c.1371C>G | ENSP00000506622.1:p.Tyr457Ter | |
| ENST00000681290.1:c.1566C>G | ENSP00000505288.1:p.Tyr522Ter | |
| ENST00000265104.4:c.1611C>G | ENSP00000265104.4:p.Tyr537Ter | |
| ENST00000508040.1:n.2019C>G | ||
| NM_001369.2:c.1611C>G | NP_001360.1:p.Tyr537Ter | |
| XM_005248262.2:c.1566C>G | XP_005248319.1:p.Tyr522Ter | |
| XM_011513990.1:c.1611C>G | XP_011512292.1:p.Tyr537Ter | |
| XR_925598.1:n.1818C>G | ||
| XM_005248262.3:c.1719C>G | XP_005248319.2:p.Tyr573Ter | |
| XM_017009177.1:c.1719C>G | XP_016864666.1:p.Tyr573Ter | |
| XM_017009178.1:c.624C>G | XP_016864667.1:p.Tyr208Ter | |
| XM_017009179.2:c.624C>G | XP_016864668.1:p.Tyr208Ter | |
| XM_017009180.1:c.1719C>G | XP_016864669.1:p.Tyr573Ter | |
| XM_017009181.1:c.1719C>G | XP_016864670.1:p.Tyr573Ter | |
| XM_017009182.1:c.1719C>G | XP_016864671.1:p.Tyr573Ter | |
| XM_017009183.1:c.1719C>G | XP_016864672.1:p.Tyr573Ter | |
| XM_017009184.1:c.1719C>G | XP_016864673.1:p.Tyr573Ter | |
| XM_017009187.1:c.1719C>G | XP_016864676.1:p.Tyr573Ter | |
| XM_024454388.1:c.624C>G | XP_024310156.1:p.Tyr208Ter | |
| XM_024454389.1:c.213C>G | XP_024310157.1:p.Tyr71Ter | |
| XR_001742034.1:n.1736C>G | ||
| XR_001742035.1:n.1736C>G | ||
| NM_001369.3:c.1611C>G MANE Select | NP_001360.1:p.Tyr537Ter |