Linked Data
ClinVar Variation Id:
3014945
ClinVar RCV Id:
RCV003878568
dbSNP Id:
rs748634893
ExAC:
15:73615406 C / T
gnomAD v2:
15-73615406-C-T
gnomAD v4:
15-73323065-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73323065C>T , CM000677.2:g.73323065C>T | GRCh38 |
| NC_000015.9:g.73615406C>T , CM000677.1:g.73615406C>T | GRCh37 |
| NC_000015.8:g.71402459C>T | NCBI36 |
| NG_009063.1:g.51200G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.3028G>A MANE Select | ENSP00000261917.3:p.Ala1010Thr | |
| ENST00000261917.3:c.3028G>A | ENSP00000261917.3:p.Ala1010Thr | |
| NM_005477.2:c.3028G>A | NP_005468.1:p.Ala1010Thr | |
| XM_011521148.1:c.1810G>A | XP_011519450.1:p.Ala604Thr | |
| XM_011521148.2:c.1810G>A | XP_011519450.1:p.Ala604Thr | |
| NM_005477.3:c.3028G>A MANE Select | NP_005468.1:p.Ala1010Thr |