Linked Data
ClinVar Variation Id:
137434
dbSNP Id:
rs144630886
ExAC:
19:1399840 G / A
gnomAD v2:
19-1399840-G-A
gnomAD v3:
19-1399841-G-A
gnomAD v4:
19-1399841-G-A
ERepo:
CA291015/MONDO:0012999/026
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1399841G>A , CM000681.2:g.1399841G>A | GRCh38 |
| NC_000019.9:g.1399840G>A , CM000681.1:g.1399840G>A | GRCh37 |
| NC_000019.8:g.1350840G>A | NCBI36 |
| NG_009785.1:g.6713C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252288.8:c.279C>T MANE Select | ENSP00000252288.1:p.Asp93= | |
| ENST00000447102.8:c.279C>T | ENSP00000403536.2:p.Asp93= | |
| ENST00000640762.1:c.210C>T | ENSP00000492031.1:p.Asp70= | |
| ENST00000252288.6:c.279C>T | ENSP00000252288.1:p.Asp93= | |
| ENST00000447102.7:c.279C>T | ENSP00000403536.2:p.Asp93= | |
| NM_000156.5:c.279C>T | NP_000147.1:p.Asp93= | |
| NM_138924.2:c.279C>T | NP_620279.1:p.Asp93= | |
| NM_000156.6:c.279C>T MANE Select | NP_000147.1:p.Asp93= | |
| NM_138924.3:c.279C>T | NP_620279.1:p.Asp93= |