Linked Data
dbSNP Id:
rs1239880042
gnomAD v2:
19-41920040-G-A
gnomAD v3:
19-41414135-G-A
gnomAD v4:
19-41414135-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41414135G>A , CM000681.2:g.41414135G>A | GRCh38 |
| NC_000019.9:g.41920040G>A , CM000681.1:g.41920040G>A | GRCh37 |
| NC_000019.8:g.46611880G>A | NCBI36 |
| NG_013004.1:g.21347G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.462G>A MANE Select | ENSP00000269980.2:p.Val154= | |
| ENST00000269980.6:c.462G>A | ENSP00000269980.2:p.Val154= | |
| ENST00000457836.6:c.396G>A | ENSP00000416000.2:p.Val132= | |
| ENST00000538423.5:n.588G>A | ||
| ENST00000540732.3:c.564G>A | ENSP00000443246.1:p.Val188= | |
| ENST00000541315.1:c.269G>A | ||
| ENST00000542943.5:c.375G>A | ENSP00000440345.1:p.Val125= | |
| ENST00000595085.5:c.462G>A | ENSP00000471150.2:p.Val154= | |
| NM_000709.3:c.462G>A | NP_000700.1:p.Val154= | |
| NM_001164783.1:c.462G>A | NP_001158255.1:p.Val154= | |
| NM_000709.4:c.462G>A MANE Select | NP_000700.1:p.Val154= | |
| NM_001164783.2:c.462G>A | NP_001158255.1:p.Val154= |