Linked Data
ClinVar Variation Id:
238972
dbSNP Id:
rs148017278
ExAC:
5:13923460 G / A
gnomAD v2:
5-13923460-G-A
gnomAD v3:
5-13923351-G-A
gnomAD v4:
5-13923351-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13923351G>A , CM000667.2:g.13923351G>A | GRCh38 |
| NC_000005.9:g.13923460G>A , CM000667.1:g.13923460G>A | GRCh37 |
| NC_000005.8:g.13976460G>A | NCBI36 |
| NG_013081.1:g.26130C>T | |
| NG_013081.2:g.26130C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000680213.2:n.423C>T | ||
| ENST00000682376.1:n.411C>T | ||
| ENST00000682586.1:n.411C>T | ||
| ENST00000683011.1:n.335-29C>T | ||
| ENST00000683967.1:n.417C>T | ||
| ENST00000684013.1:n.417C>T | ||
| ENST00000684099.1:n.462C>T | ||
| ENST00000265104.5:c.367C>T MANE Select | ENSP00000265104.4:p.Leu123Phe | |
| ENST00000680213.1:c.127C>T | ENSP00000506622.1:p.Leu43Phe | |
| ENST00000681290.1:c.322C>T | ENSP00000505288.1:p.Leu108Phe | |
| ENST00000265104.4:c.367C>T | ENSP00000265104.4:p.Leu123Phe | |
| ENST00000508040.1:n.726C>T | ||
| NM_001369.2:c.367C>T | NP_001360.1:p.Leu123Phe | |
| XM_005248262.2:c.322C>T | XP_005248319.1:p.Leu108Phe | |
| XM_011513990.1:c.367C>T | XP_011512292.1:p.Leu123Phe | |
| XR_925598.1:n.574C>T | ||
| XM_005248262.3:c.475C>T | XP_005248319.2:p.Leu159Phe | |
| XM_017009177.1:c.475C>T | XP_016864666.1:p.Leu159Phe | |
| XM_017009178.1:c.-670C>T | XP_016864667.1:n.-670C>T | |
| XM_017009180.1:c.475C>T | XP_016864669.1:p.Leu159Phe | |
| XM_017009181.1:c.475C>T | XP_016864670.1:p.Leu159Phe | |
| XM_017009182.1:c.475C>T | XP_016864671.1:p.Leu159Phe | |
| XM_017009183.1:c.475C>T | XP_016864672.1:p.Leu159Phe | |
| XM_017009184.1:c.475C>T | XP_016864673.1:p.Leu159Phe | |
| XM_017009187.1:c.475C>T | XP_016864676.1:p.Leu159Phe | |
| XM_024454388.1:c.-2540C>T | XP_024310156.1:n.-2540C>T | |
| XM_024454389.1:c.-1593C>T | XP_024310157.1:n.-1593C>T | |
| XR_001742034.1:n.492C>T | ||
| XR_001742035.1:n.492C>T | ||
| NM_001369.3:c.367C>T MANE Select | NP_001360.1:p.Leu123Phe |