Linked Data
dbSNP Id:
rs745500699
ExAC:
19:41919960 A / G
gnomAD v2:
19-41919960-A-G
gnomAD v4:
19-41414055-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41414055A>G , CM000681.2:g.41414055A>G | GRCh38 |
| NC_000019.9:g.41919960A>G , CM000681.1:g.41919960A>G | GRCh37 |
| NC_000019.8:g.46611800A>G | NCBI36 |
| NG_013004.1:g.21267A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.382A>G MANE Select | ENSP00000269980.2:p.Ile128Val | |
| ENST00000269980.6:c.382A>G | ENSP00000269980.2:p.Ile128Val | |
| ENST00000457836.6:c.316A>G | ENSP00000416000.2:p.Ile106Val | |
| ENST00000538423.5:n.508A>G | ||
| ENST00000540732.3:c.484A>G | ENSP00000443246.1:p.Ile162Val | |
| ENST00000541315.1:c.189A>G | ||
| ENST00000542943.5:c.295A>G | ENSP00000440345.1:p.Ile99Val | |
| ENST00000595085.5:c.382A>G | ENSP00000471150.2:p.Ile128Val | |
| NM_000709.3:c.382A>G | NP_000700.1:p.Ile128Val | |
| NM_001164783.1:c.382A>G | NP_001158255.1:p.Ile128Val | |
| NM_000709.4:c.382A>G MANE Select | NP_000700.1:p.Ile128Val | |
| NM_001164783.2:c.382A>G | NP_001158255.1:p.Ile128Val |