Linked Data
ClinVar Variation Id:
1562
dbSNP Id:
rs104894592
ExAC:
17:40693092 C / T
gnomAD v2:
17-40693092-C-T
gnomAD v3:
17-42541074-C-T
gnomAD v4:
17-42541074-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42541074C>T , CM000679.2:g.42541074C>T | GRCh38 |
| NC_000017.10:g.40693092C>T , CM000679.1:g.40693092C>T | GRCh37 |
| NC_000017.9:g.37946618C>T | NCBI36 |
| NG_011552.1:g.10142C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.889C>T MANE Select | ENSP00000225927.1:p.Arg297Ter | |
| ENST00000225927.6:c.889C>T | ENSP00000225927.1:p.Arg297Ter | |
| ENST00000586516.5:c.491C>T | ||
| ENST00000591587.1:c.360-1954C>T | ENSP00000467836.1:n.360-1954C>T | |
| NM_000263.3:c.889C>T | NP_000254.2:p.Arg297Ter | |
| XM_006721920.2:c.58C>T | XP_006721983.1:p.Arg20Ter | |
| XM_011524840.1:c.23-1954C>T | XP_011523142.1:n.23-1954C>T | |
| XM_017024687.1:c.58C>T | XP_016880176.1:p.Arg20Ter | |
| XM_024450771.1:c.946C>T | XP_024306539.1:p.Arg316Ter | |
| XM_024450772.1:c.23-1954C>T | XP_024306540.1:n.23-1954C>T | |
| NM_000263.4:c.889C>T MANE Select | NP_000254.2:p.Arg297Ter |