Linked Data
ClinVar Variation Id:
21061
ClinVar RCV Id:
RCV000239641
dbSNP Id:
rs80356485
ExAC:
17:41063093 C / T
gnomAD v2:
17-41063093-C-T
gnomAD v3:
17-42911076-C-T
gnomAD v4:
17-42911076-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42911076C>T , CM000679.2:g.42911076C>T | GRCh38 |
| NC_000017.10:g.41063093C>T , CM000679.1:g.41063093C>T | GRCh37 |
| NC_000017.9:g.38316619C>T | NCBI36 |
| NG_011808.1:g.15279C>T , LRG_147:g.15279C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253801.7:c.724C>T MANE Select | ENSP00000253801.1:p.Gln242Ter | |
| ENST00000253801.6:c.724C>T | ENSP00000253801.1:p.Gln242Ter | |
| ENST00000585489.1:c.*116C>T | ENSP00000466202.1:n.*116C>T | |
| ENST00000592383.5:c.*116C>T | ENSP00000465958.1:n.*116C>T | |
| NM_000151.3:c.724C>T | NP_000142.2:p.Gln242Ter | |
| NM_001270397.1:c.*116C>T | NP_001257326.1:n.*116C>T | |
| NM_000151.4:c.724C>T MANE Select | NP_000142.2:p.Gln242Ter | |
| NM_001270397.2:c.*116C>T | NP_001257326.1:n.*116C>T |