Linked Data
dbSNP Id:
rs776045519
ExAC:
1:949662 C / A
gnomAD v2:
1-949662-C-A
gnomAD v3:
1-1014282-C-A
gnomAD v4:
1-1014282-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1014282C>A , CM000663.2:g.1014282C>A | GRCh38 |
| NC_000001.10:g.949662C>A , CM000663.1:g.949662C>A | GRCh37 |
| NC_000001.9:g.939525C>A | NCBI36 |
| NG_033033.1:g.5816C>A | |
| NG_033033.2:g.18145C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000624697.4:c.278C>A | ENSP00000485643.1:p.Thr93Lys | |
| ENST00000649529.1:c.302C>A MANE Select | ENSP00000496832.1:p.Thr101Lys | |
| ENST00000379389.4:c.302C>A | ENSP00000368699.4:p.Thr101Lys | |
| ENST00000624652.1:c.278C>A | ENSP00000485313.1:p.Thr93Lys | |
| ENST00000624697.3:c.278C>A | ENSP00000485643.1:p.Thr93Lys | |
| NM_005101.3:c.302C>A | NP_005092.1:p.Thr101Lys | |
| NM_005101.4:c.302C>A MANE Select | NP_005092.1:p.Thr101Lys |