Linked Data
ClinVar Variation Id:
3224723
ClinVar RCV Id:
RCV004521413
dbSNP Id:
rs780495317
ExAC:
15:73615211 T / C
gnomAD v2:
15-73615211-T-C
gnomAD v4:
15-73322870-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73322870T>C , CM000677.2:g.73322870T>C | GRCh38 |
| NC_000015.9:g.73615211T>C , CM000677.1:g.73615211T>C | GRCh37 |
| NC_000015.8:g.71402264T>C | NCBI36 |
| NG_009063.1:g.51395A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.3223A>G MANE Select | ENSP00000261917.3:p.Thr1075Ala | |
| ENST00000261917.3:c.3223A>G | ENSP00000261917.3:p.Thr1075Ala | |
| NM_005477.2:c.3223A>G | NP_005468.1:p.Thr1075Ala | |
| XM_011521148.1:c.2005A>G | XP_011519450.1:p.Thr669Ala | |
| XM_011521148.2:c.2005A>G | XP_011519450.1:p.Thr669Ala | |
| NM_005477.3:c.3223A>G MANE Select | NP_005468.1:p.Thr1075Ala |