Linked Data
ClinVar Variation Id:
98904
dbSNP Id:
rs61752908
ExAC:
1:68904634 C / T
gnomAD v2:
1-68904634-C-T
gnomAD v4:
1-68438951-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68438951C>T , CM000663.2:g.68438951C>T | GRCh38 |
| NC_000001.10:g.68904634C>T , CM000663.1:g.68904634C>T | GRCh37 |
| NC_000001.9:g.68677222C>T | NCBI36 |
| NG_008472.1:g.16009G>A | |
| NG_008472.2:g.16009G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.989G>A MANE Select | ENSP00000262340.5:p.Cys330Tyr | |
| ENST00000262340.5:c.989G>A | ENSP00000262340.5:p.Cys330Tyr | |
| NM_000329.2:c.989G>A | NP_000320.1:p.Cys330Tyr | |
| XM_017002027.1:c.713G>A | XP_016857516.1:p.Cys238Tyr | |
| NM_000329.3:c.989G>A MANE Select | NP_000320.1:p.Cys330Tyr |