Linked Data
ClinVar Variation Id:
516094
dbSNP Id:
rs559092619
ExAC:
19:1399804 C / T
gnomAD v2:
19-1399804-C-T
gnomAD v3:
19-1399805-C-T
gnomAD v4:
19-1399805-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1399805C>T , CM000681.2:g.1399805C>T | GRCh38 |
| NC_000019.9:g.1399804C>T , CM000681.1:g.1399804C>T | GRCh37 |
| NC_000019.8:g.1350804C>T | NCBI36 |
| NG_009785.1:g.6749G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252288.8:c.315G>A MANE Select | ENSP00000252288.1:p.Arg105= | |
| ENST00000447102.8:c.315G>A | ENSP00000403536.2:p.Arg105= | |
| ENST00000640762.1:c.246G>A | ENSP00000492031.1:p.Arg82= | |
| ENST00000252288.6:c.315G>A | ENSP00000252288.1:p.Arg105= | |
| ENST00000447102.7:c.315G>A | ENSP00000403536.2:p.Arg105= | |
| NM_000156.5:c.315G>A | NP_000147.1:p.Arg105= | |
| NM_138924.2:c.315G>A | NP_620279.1:p.Arg105= | |
| NM_000156.6:c.315G>A MANE Select | NP_000147.1:p.Arg105= | |
| NM_138924.3:c.315G>A | NP_620279.1:p.Arg105= |