Linked Data
ClinVar Variation Id:
538095
ClinVar RCV Id:
RCV000647256
dbSNP Id:
rs747884744
ExAC:
15:73635963 T / C
gnomAD v3:
15-73343622-T-C
gnomAD v4:
15-73343622-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73343622T>C , CM000677.2:g.73343622T>C | GRCh38 |
| NC_000015.9:g.73635963T>C , CM000677.1:g.73635963T>C | GRCh37 |
| NC_000015.8:g.71423016T>C | NCBI36 |
| NG_009063.1:g.30643A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261917.4:c.972A>G MANE Select | ENSP00000261917.3:p.Thr324= | |
| ENST00000261917.3:c.972A>G | ENSP00000261917.3:p.Thr324= | |
| NM_005477.2:c.972A>G | NP_005468.1:p.Thr324= | |
| NM_005477.3:c.972A>G MANE Select | NP_005468.1:p.Thr324= |