Linked Data
dbSNP Id:
rs115938602
ExAC:
1:153656228 C / A
gnomAD v2:
1-153656228-C-A
gnomAD v3:
1-153683752-C-A
gnomAD v4:
1-153683752-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.153683752C>A , CM000663.2:g.153683752C>A | GRCh38 |
| NC_000001.10:g.153656228C>A , CM000663.1:g.153656228C>A | GRCh37 |
| NC_000001.9:g.151922852C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368680.4:c.1412C>A MANE Select | ENSP00000357669.3:p.Thr471Asn | |
| ENST00000368680.3:c.1412C>A | ENSP00000357669.3:p.Thr471Asn | |
| NM_000906.3:c.1412C>A | NP_000897.3:p.Thr471Asn | |
| XM_005245218.1:c.1412C>A | XP_005245275.1:p.Thr471Asn | |
| XM_006711342.1:c.1412C>A | XP_006711405.1:p.Thr471Asn | |
| XM_006711343.1:c.1412C>A | XP_006711406.1:p.Thr471Asn | |
| XM_011509585.1:c.1412C>A | XP_011507887.1:p.Thr471Asn | |
| XM_005245218.2:c.1412C>A | XP_005245275.1:p.Thr471Asn | |
| XM_017001374.2:c.1412C>A | XP_016856863.1:p.Thr471Asn | |
| NM_000906.4:c.1412C>A MANE Select | NP_000897.3:p.Thr471Asn |