Linked Data
ClinVar Variation Id:
2198366
ClinVar RCV Id:
RCV002629334
dbSNP Id:
rs778844954
ExAC:
15:73622004 G / A
gnomAD v2:
15-73622004-G-A
gnomAD v4:
15-73329663-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73329663G>A , CM000677.2:g.73329663G>A | GRCh38 |
| NC_000015.9:g.73622004G>A , CM000677.1:g.73622004G>A | GRCh37 |
| NC_000015.8:g.71409057G>A | NCBI36 |
| NG_009063.1:g.44602C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.1500C>T MANE Select | ENSP00000261917.3:p.Ile500= | |
| ENST00000261917.3:c.1500C>T | ENSP00000261917.3:p.Ile500= | |
| NM_005477.2:c.1500C>T | NP_005468.1:p.Ile500= | |
| XM_011521148.1:c.282C>T | XP_011519450.1:p.Ile94= | |
| XM_011521148.2:c.282C>T | XP_011519450.1:p.Ile94= | |
| NM_005477.3:c.1500C>T MANE Select | NP_005468.1:p.Ile500= |