Linked Data
dbSNP Id:
rs958452087
gnomAD v2:
19-47507582-G-A
gnomAD v3:
19-47004325-G-A
gnomAD v4:
19-47004325-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.47004325G>A , CM000681.2:g.47004325G>A | GRCh38 |
| NC_000019.9:g.47507582G>A , CM000681.1:g.47507582G>A | GRCh37 |
| NC_000019.8:g.52199422G>A | NCBI36 |
| NG_047014.1:g.90759G>A | |
| NG_047014.2:g.148329G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404338.8:c.8137G>A | ENSP00000385720.2:n.8137G>A | |
| ENST00000672722.1:c.*3637G>A MANE Select | ENSP00000500409.1:n.*3637G>A | |
| ENST00000404338.7:c.8137G>A | ENSP00000385720.2:n.8137G>A | |
| NM_004491.4:c.8137G>A | NP_004482.4:n.8137G>A | |
| NM_004491.5:c.*3637G>A MANE Select | NP_004482.4:n.*3637G>A |