Linked Data
dbSNP Id:
rs1403366196
gnomAD v2:
19-41928596-G-A
gnomAD v3:
19-41422691-G-A
gnomAD v4:
19-41422691-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41422691G>A , CM000681.2:g.41422691G>A | GRCh38 |
| NC_000019.9:g.41928596G>A , CM000681.1:g.41928596G>A | GRCh37 |
| NC_000019.8:g.46620436G>A | NCBI36 |
| NG_013004.1:g.29903G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.916G>A MANE Select | ENSP00000269980.2:p.Val306Ile | |
| ENST00000269980.6:c.916G>A | ENSP00000269980.2:p.Val306Ile | |
| ENST00000457836.6:c.850G>A | ENSP00000416000.2:p.Val284Ile | |
| ENST00000535632.5:n.545G>A | ||
| ENST00000540732.3:c.1018G>A | ENSP00000443246.1:p.Val340Ile | |
| ENST00000542943.5:c.829G>A | ENSP00000440345.1:p.Val277Ile | |
| ENST00000545787.1:n.544G>A | ||
| ENST00000595085.5:c.916G>A | ENSP00000471150.2:p.Val306Ile | |
| NM_000709.3:c.916G>A | NP_000700.1:p.Val306Ile | |
| NM_001164783.1:c.913G>A | NP_001158255.1:p.Val305Ile | |
| NM_000709.4:c.916G>A MANE Select | NP_000700.1:p.Val306Ile | |
| NM_001164783.2:c.913G>A | NP_001158255.1:p.Val305Ile |