Linked Data
dbSNP Id:
rs762582486
ExAC:
15:78894500 C / T
gnomAD v2:
15-78894500-C-T
gnomAD v4:
15-78602158-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.78602158C>T , CM000677.2:g.78602158C>T | GRCh38 |
| NC_000015.9:g.78894500C>T , CM000677.1:g.78894500C>T | GRCh37 |
| NC_000015.8:g.76681555C>T | NCBI36 |
| NG_016143.1:g.24138G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326828.6:c.484G>A MANE Select | ENSP00000315602.5:p.Asp162Asn | |
| ENST00000326828.5:c.484G>A | ENSP00000315602.5:p.Asp162Asn | |
| ENST00000348639.7:c.484G>A | ENSP00000267951.4:p.Asp162Asn | |
| ENST00000558903.1:n.191G>A | ||
| ENST00000559658.5:c.484G>A | ENSP00000452896.1:p.Asp162Asn | |
| NM_000743.4:c.484G>A | NP_000734.2:p.Asp162Asn | |
| NM_001166694.1:c.484G>A | NP_001160166.1:p.Asp162Asn | |
| NR_046313.1:n.985G>A | ||
| XM_006720382.1:c.283G>A | XP_006720445.1:p.Asp95Asn | |
| XM_011521173.1:c.403G>A | XP_011519475.1:p.Asp135Asn | |
| XM_006720382.3:c.283G>A | XP_006720445.1:p.Asp95Asn | |
| NM_000743.5:c.484G>A MANE Select | NP_000734.2:p.Asp162Asn | |
| NM_001166694.2:c.484G>A | NP_001160166.1:p.Asp162Asn | |
| NR_046313.2:n.686G>A |