Linked Data
ClinVar Variation Id:
240170
ClinVar RCV Id:
RCV000229597
dbSNP Id:
rs878854774
gnomAD v4:
15-73322786-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73322786T>C , CM000677.2:g.73322786T>C | GRCh38 |
| NC_000015.9:g.73615127T>C , CM000677.1:g.73615127T>C | GRCh37 |
| NC_000015.8:g.71402180T>C | NCBI36 |
| NG_009063.1:g.51479A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261917.4:c.3307A>G MANE Select | ENSP00000261917.3:p.Arg1103Gly | |
| ENST00000261917.3:c.3307A>G | ENSP00000261917.3:p.Arg1103Gly | |
| NM_005477.2:c.3307A>G | NP_005468.1:p.Arg1103Gly | |
| XM_011521148.1:c.2089A>G | XP_011519450.1:p.Arg697Gly | |
| XM_011521148.2:c.2089A>G | XP_011519450.1:p.Arg697Gly | |
| NM_005477.3:c.3307A>G MANE Select | NP_005468.1:p.Arg1103Gly |