Linked Data
ClinVar Variation Id:
454765
dbSNP Id:
rs145920072
ExAC:
5:13923485 G / A
gnomAD v2:
5-13923485-G-A
gnomAD v3:
5-13923376-G-A
gnomAD v4:
5-13923376-G-A
COSMIC:
COSM448688
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13923376G>A , CM000667.2:g.13923376G>A | GRCh38 |
| NC_000005.9:g.13923485G>A , CM000667.1:g.13923485G>A | GRCh37 |
| NC_000005.8:g.13976485G>A | NCBI36 |
| NG_013081.1:g.26105C>T | |
| NG_013081.2:g.26105C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000680213.2:n.398C>T | ||
| ENST00000682376.1:n.386C>T | ||
| ENST00000682586.1:n.386C>T | ||
| ENST00000683011.1:n.334+42C>T | ||
| ENST00000683967.1:n.392C>T | ||
| ENST00000684013.1:n.392C>T | ||
| ENST00000684099.1:n.437C>T | ||
| ENST00000265104.5:c.342C>T MANE Select | ENSP00000265104.4:p.Phe114= | |
| ENST00000680213.1:c.102C>T | ENSP00000506622.1:p.Phe34= | |
| ENST00000681290.1:c.297C>T | ENSP00000505288.1:p.Phe99= | |
| ENST00000265104.4:c.342C>T | ENSP00000265104.4:p.Phe114= | |
| ENST00000508040.1:n.701C>T | ||
| NM_001369.2:c.342C>T | NP_001360.1:p.Phe114= | |
| XM_005248262.2:c.297C>T | XP_005248319.1:p.Phe99= | |
| XM_011513990.1:c.342C>T | XP_011512292.1:p.Phe114= | |
| XR_925598.1:n.549C>T | ||
| XM_005248262.3:c.450C>T | XP_005248319.2:p.Phe150= | |
| XM_017009177.1:c.450C>T | XP_016864666.1:p.Phe150= | |
| XM_017009178.1:c.-695C>T | XP_016864667.1:n.-695C>T | |
| XM_017009180.1:c.450C>T | XP_016864669.1:p.Phe150= | |
| XM_017009181.1:c.450C>T | XP_016864670.1:p.Phe150= | |
| XM_017009182.1:c.450C>T | XP_016864671.1:p.Phe150= | |
| XM_017009183.1:c.450C>T | XP_016864672.1:p.Phe150= | |
| XM_017009184.1:c.450C>T | XP_016864673.1:p.Phe150= | |
| XM_017009187.1:c.450C>T | XP_016864676.1:p.Phe150= | |
| XM_024454388.1:c.-2565C>T | XP_024310156.1:n.-2565C>T | |
| XM_024454389.1:c.-1618C>T | XP_024310157.1:n.-1618C>T | |
| XR_001742034.1:n.467C>T | ||
| XR_001742035.1:n.467C>T | ||
| NM_001369.3:c.342C>T MANE Select | NP_001360.1:p.Phe114= |