Linked Data
ClinVar Variation Id:
351217
dbSNP Id:
rs201706790
ExAC:
5:13919314 G / A
gnomAD v2:
5-13919314-G-A
gnomAD v3:
5-13919205-G-A
gnomAD v4:
5-13919205-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13919205G>A , CM000667.2:g.13919205G>A | GRCh38 |
| NC_000005.9:g.13919314G>A , CM000667.1:g.13919314G>A | GRCh37 |
| NC_000005.8:g.13972314G>A | NCBI36 |
| NG_013081.1:g.30276C>T | |
| NG_013081.2:g.30276C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000680213.2:n.1002C>T | ||
| ENST00000682376.1:n.990C>T | ||
| ENST00000682586.1:n.1039C>T | ||
| ENST00000683011.1:n.885C>T | ||
| ENST00000683967.1:n.1045C>T | ||
| ENST00000684013.1:n.1045C>T | ||
| ENST00000684099.1:n.1041C>T | ||
| ENST00000265104.5:c.946C>T MANE Select | ENSP00000265104.4:p.Leu316Phe | |
| ENST00000680213.1:c.706C>T | ENSP00000506622.1:p.Leu236Phe | |
| ENST00000681290.1:c.901C>T | ENSP00000505288.1:p.Leu301Phe | |
| ENST00000265104.4:c.946C>T | ENSP00000265104.4:p.Leu316Phe | |
| ENST00000508040.1:n.1354C>T | ||
| NM_001369.2:c.946C>T | NP_001360.1:p.Leu316Phe | |
| XM_005248262.2:c.901C>T | XP_005248319.1:p.Leu301Phe | |
| XM_011513990.1:c.946C>T | XP_011512292.1:p.Leu316Phe | |
| XR_925598.1:n.1153C>T | ||
| XM_005248262.3:c.1054C>T | XP_005248319.2:p.Leu352Phe | |
| XM_017009177.1:c.1054C>T | XP_016864666.1:p.Leu352Phe | |
| XM_017009178.1:c.-42C>T | XP_016864667.1:n.-42C>T | |
| XM_017009180.1:c.1054C>T | XP_016864669.1:p.Leu352Phe | |
| XM_017009181.1:c.1054C>T | XP_016864670.1:p.Leu352Phe | |
| XM_017009182.1:c.1054C>T | XP_016864671.1:p.Leu352Phe | |
| XM_017009183.1:c.1054C>T | XP_016864672.1:p.Leu352Phe | |
| XM_017009184.1:c.1054C>T | XP_016864673.1:p.Leu352Phe | |
| XM_017009187.1:c.1054C>T | XP_016864676.1:p.Leu352Phe | |
| XM_024454388.1:c.-1961C>T | XP_024310156.1:n.-1961C>T | |
| XM_024454389.1:c.-1014C>T | XP_024310157.1:n.-1014C>T | |
| XR_001742034.1:n.1071C>T | ||
| XR_001742035.1:n.1071C>T | ||
| NM_001369.3:c.946C>T MANE Select | NP_001360.1:p.Leu316Phe |