Linked Data
ClinVar Variation Id:
475278
dbSNP Id:
rs61766284
ExAC:
1:949597 C / T
gnomAD v2:
1-949597-C-T
gnomAD v3:
1-1014217-C-T
gnomAD v4:
1-1014217-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1014217C>T , CM000663.2:g.1014217C>T | GRCh38 |
| NC_000001.10:g.949597C>T , CM000663.1:g.949597C>T | GRCh37 |
| NC_000001.9:g.939460C>T | NCBI36 |
| NG_033033.1:g.5751C>T | |
| NG_033033.2:g.18080C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000624697.4:c.213C>T | ENSP00000485643.1:p.Asp71= | |
| ENST00000649529.1:c.237C>T MANE Select | ENSP00000496832.1:p.Asp79= | |
| ENST00000379389.4:c.237C>T | ENSP00000368699.4:p.Asp79= | |
| ENST00000624652.1:c.213C>T | ENSP00000485313.1:p.Asp71= | |
| ENST00000624697.3:c.213C>T | ENSP00000485643.1:p.Asp71= | |
| NM_005101.3:c.237C>T | NP_005092.1:p.Asp79= | |
| NM_005101.4:c.237C>T MANE Select | NP_005092.1:p.Asp79= |