Linked Data
ClinVar Variation Id:
137433
dbSNP Id:
rs202151546
ExAC:
19:1399894 C / T
gnomAD v2:
19-1399894-C-T
gnomAD v3:
19-1399895-C-T
gnomAD v4:
19-1399895-C-T
ERepo:
CA291013/MONDO:0012999/026
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1399895C>T , CM000681.2:g.1399895C>T | GRCh38 |
| NC_000019.9:g.1399894C>T , CM000681.1:g.1399894C>T | GRCh37 |
| NC_000019.8:g.1350894C>T | NCBI36 |
| NG_009785.1:g.6659G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252288.8:c.225G>A MANE Select | ENSP00000252288.1:p.Ala75= | |
| ENST00000447102.8:c.225G>A | ENSP00000403536.2:p.Ala75= | |
| ENST00000640762.1:c.156G>A | ENSP00000492031.1:p.Ala52= | |
| ENST00000252288.6:c.225G>A | ENSP00000252288.1:p.Ala75= | |
| ENST00000447102.7:c.225G>A | ENSP00000403536.2:p.Ala75= | |
| NM_000156.5:c.225G>A | NP_000147.1:p.Ala75= | |
| NM_138924.2:c.225G>A | NP_620279.1:p.Ala75= | |
| NM_000156.6:c.225G>A MANE Select | NP_000147.1:p.Ala75= | |
| NM_138924.3:c.225G>A | NP_620279.1:p.Ala75= |