Linked Data
ClinVar Variation Id:
478872
dbSNP Id:
rs199768005
ExAC:
19:45412314 T / A
gnomAD v2:
19-45412314-T-A
gnomAD v3:
19-44909057-T-A
gnomAD v4:
19-44909057-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44909057T>A , CM000681.2:g.44909057T>A | GRCh38 |
| NC_000019.9:g.45412314T>A , CM000681.1:g.45412314T>A | GRCh37 |
| NC_000019.8:g.50104154T>A | NCBI36 |
| NG_007084.2:g.8276T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252486.9:c.761T>A MANE Select | ENSP00000252486.3:p.Val254Glu | |
| ENST00000252486.8:c.761T>A | ENSP00000252486.3:p.Val254Glu | |
| NM_000041.3:c.761T>A | NP_000032.1:p.Val254Glu | |
| NM_001302688.1:c.839T>A | NP_001289617.1:p.Val280Glu | |
| NM_001302689.1:c.761T>A | NP_001289618.1:p.Val254Glu | |
| NM_001302690.1:c.761T>A | NP_001289619.1:p.Val254Glu | |
| NM_001302691.1:c.761T>A | NP_001289620.1:p.Val254Glu | |
| NM_000041.4:c.761T>A MANE Select | NP_000032.1:p.Val254Glu | |
| NM_001302688.2:c.839T>A | NP_001289617.1:p.Val280Glu | |
| NM_001302689.2:c.761T>A | NP_001289618.1:p.Val254Glu | |
| NM_001302691.2:c.761T>A | NP_001289620.1:p.Val254Glu | |
| NM_001302690.2:c.761T>A | NP_001289619.1:p.Val254Glu |