Linked Data
ClinVar Variation Id:
216955
ClinVar RCV Id:
RCV000198279
dbSNP Id:
rs59349773
gnomAD v2:
17-39768576-T-C
gnomAD v3:
17-41612324-T-C
gnomAD v4:
17-41612324-T-C
PubMed:
PMID:25326637
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41612324T>C , CM000679.2:g.41612324T>C | GRCh38 |
| NC_000017.10:g.39768576T>C , CM000679.1:g.39768576T>C | GRCh37 |
| NC_000017.9:g.37022102T>C | NCBI36 |
| NG_008301.1:g.5504A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301653.9:c.365A>G MANE Select | ENSP00000301653.3:p.Gln122Arg | |
| ENST00000301653.8:c.365A>G | ENSP00000301653.3:p.Gln122Arg | |
| ENST00000588319.1:n.442A>G | ||
| ENST00000593067.1:c.-312-38A>G | ENSP00000467124.1:n.-312-38A>G | |
| NM_005557.3:c.365A>G | NP_005548.2:p.Gln122Arg | |
| NM_005557.4:c.365A>G MANE Select | NP_005548.2:p.Gln122Arg |