Linked Data
ClinVar Variation Id:
96713
ClinVar RCV Id:
RCV000082872
dbSNP Id:
rs398124629
gnomAD v4:
17-66228149-T-C
COSMIC:
COSM5893900
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.66228149T>C , CM000679.2:g.66228149T>C | GRCh38 |
| NC_000017.10:g.64224267T>C , CM000679.1:g.64224267T>C | GRCh37 |
| NC_000017.9:g.61654729T>C | NCBI36 |
| NG_012045.1:g.6290A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000205948.11:c.112A>G MANE Select | ENSP00000205948.6:p.Lys38Glu | |
| ENST00000205948.10:c.112A>G | ENSP00000205948.6:p.Lys38Glu | |
| ENST00000577982.1:c.112A>G | ENSP00000464301.1:p.Lys38Glu | |
| ENST00000581797.5:c.-69A>G | ENSP00000463553.1:n.-69A>G | |
| NM_000042.2:c.112A>G | NP_000033.2:p.Lys38Glu | |
| NM_000042.3:c.112A>G MANE Select | NP_000033.2:p.Lys38Glu |