Linked Data
ClinVar Variation Id:
260016
dbSNP Id:
rs765152833
ExAC:
16:30732214 C / T
gnomAD v2:
16-30732214-C-T
gnomAD v4:
16-30720893-C-T
COSMIC:
COSM3112883
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30720893C>T , CM000678.2:g.30720893C>T | GRCh38 |
| NC_000016.9:g.30732214C>T , CM000678.1:g.30732214C>T | GRCh37 |
| NC_000016.8:g.30639715C>T | NCBI36 |
| NG_032135.1:g.26753C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411466.7:c.3168C>T | ENSP00000405186.3:p.Ala1056= | |
| ENST00000706321.1:c.3168C>T | ENSP00000516346.1:p.Ala1056= | |
| ENST00000262518.9:c.3168C>T MANE Select | ENSP00000262518.4:p.Ala1056= | |
| ENST00000262518.8:c.3168C>T | ENSP00000262518.4:p.Ala1056= | |
| ENST00000380361.7:c.3111C>T | ENSP00000369719.3:p.Ala1037= | |
| ENST00000395059.6:c.2577C>T | ENSP00000378499.3:p.Ala859= | |
| ENST00000483083.3:c.2267C>T | ||
| NM_006662.2:c.3168C>T | NP_006653.2:p.Ala1056= | |
| NM_006662.3:c.3168C>T MANE Select | NP_006653.2:p.Ala1056= |