Linked Data
ClinVar Variation Id:
501272
dbSNP Id:
rs149118721
ExAC:
16:75574039 G / A
gnomAD v2:
16-75574039-G-A
gnomAD v3:
16-75540141-G-A
gnomAD v4:
16-75540141-G-A
COSMIC:
COSM264092
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.75540141G>A , CM000678.2:g.75540141G>A | GRCh38 |
| NC_000016.9:g.75574039G>A , CM000678.1:g.75574039G>A | GRCh37 |
| NC_000016.8:g.74131540G>A | NCBI36 |
| NG_029853.1:g.30C>T | |
| NG_033109.1:g.21146C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685935.1:c.*514-76C>T | ENSP00000510128.1:n.*514-76C>T | |
| ENST00000686680.1:c.489C>T | ENSP00000508892.1:p.Phe163= | |
| ENST00000688195.1:c.432C>T | ENSP00000510115.1:p.Phe144= | |
| ENST00000688270.1:c.*125C>T | ENSP00000509823.1:n.*125C>T | |
| ENST00000688618.1:c.*631C>T | ENSP00000509271.1:n.*631C>T | |
| ENST00000689040.1:c.*911C>T | ENSP00000508573.1:n.*911C>T | |
| ENST00000692097.1:c.*555C>T | ENSP00000509668.1:n.*555C>T | |
| ENST00000692689.1:c.456C>T | ENSP00000509732.1:p.Phe152= | |
| ENST00000693457.1:c.*1029C>T | ENSP00000508414.1:n.*1029C>T | |
| ENST00000693682.1:c.*448C>T | ENSP00000508670.1:n.*448C>T | |
| ENST00000258173.11:c.804C>T MANE Select | ENSP00000258173.5:p.Phe268= | |
| ENST00000258173.10:c.804C>T | ENSP00000258173.5:p.Phe268= | |
| ENST00000460606.1:c.159+2461C>T | ||
| ENST00000562410.5:c.*606C>T | ENSP00000454582.1:n.*606C>T | |
| ENST00000564318.1:n.729C>T | ||
| ENST00000565067.5:c.660C>T | ENSP00000457254.1:p.Phe220= | |
| ENST00000568377.5:c.891C>T | ENSP00000476267.1:p.Phe297= | |
| ENST00000569294.1:n.548C>T | ||
| ENST00000570006.5:c.*184C>T | ENSP00000455520.1:n.*184C>T | |
| NM_001077416.2:c.963C>T | NP_001070884.2:p.Phe321= | |
| NM_001077418.2:c.804C>T | NP_001070886.1:p.Phe268= | |
| NR_074083.1:n.1004C>T | ||
| NM_001077418.3:c.804C>T MANE Select | NP_001070886.1:p.Phe268= | |
| NR_074083.2:n.970C>T |