Linked Data
ClinVar Variation Id:
292259
dbSNP Id:
rs751470493
ExAC:
1:119964547 C / T
gnomAD v2:
1-119964547-C-T
gnomAD v3:
1-119421924-C-T
gnomAD v4:
1-119421924-C-T
COSMIC:
COSM5071679
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119421924C>T , CM000663.2:g.119421924C>T | GRCh38 |
| NC_000001.10:g.119964547C>T , CM000663.1:g.119964547C>T | GRCh37 |
| NC_000001.9:g.119766070C>T | NCBI36 |
| NG_013349.1:g.11994C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369416.4:c.423C>T MANE Select | ENSP00000358424.3:p.His141= | |
| ENST00000369416.3:c.423C>T | ENSP00000358424.3:p.His141= | |
| ENST00000433745.5:c.423C>T | ENSP00000388292.1:p.His141= | |
| ENST00000448448.2:n.367C>T | ||
| ENST00000543831.5:c.423C>T | ENSP00000445122.1:p.His141= | |
| NM_000198.3:c.423C>T | NP_000189.1:p.His141= | |
| NM_001166120.1:c.423C>T | NP_001159592.1:p.His141= | |
| NM_000198.4:c.423C>T MANE Select | NP_000189.1:p.His141= | |
| NM_001166120.2:c.423C>T | NP_001159592.1:p.His141= |