Linked Data
ClinVar Variation Id:
1018575
ClinVar RCV Id:
RCV001317902
dbSNP Id:
rs2042868269
gnomAD v4:
15-73322707-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73322707C>T , CM000677.2:g.73322707C>T | GRCh38 |
| NC_000015.9:g.73615048C>T , CM000677.1:g.73615048C>T | GRCh37 |
| NC_000015.8:g.71402101C>T | NCBI36 |
| NG_009063.1:g.51558G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.3386G>A MANE Select | ENSP00000261917.3:p.Ser1129Asn | |
| ENST00000261917.3:c.3386G>A | ENSP00000261917.3:p.Ser1129Asn | |
| NM_005477.2:c.3386G>A | NP_005468.1:p.Ser1129Asn | |
| XM_011521148.1:c.2168G>A | XP_011519450.1:p.Ser723Asn | |
| XM_011521148.2:c.2168G>A | XP_011519450.1:p.Ser723Asn | |
| NM_005477.3:c.3386G>A MANE Select | NP_005468.1:p.Ser1129Asn |