Linked Data
dbSNP Id:
rs775137987
ExAC:
19:7598800 G / A
gnomAD v2:
19-7598800-G-A
gnomAD v3:
19-7533914-G-A
gnomAD v4:
19-7533914-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7533914G>A , CM000681.2:g.7533914G>A | GRCh38 |
| NC_000019.9:g.7598800G>A , CM000681.1:g.7598800G>A | GRCh37 |
| NC_000019.8:g.7504800G>A | NCBI36 |
| NG_013374.1:g.4763G>A | |
| NG_015806.1:g.16305G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.*119G>A MANE Select | ENSP00000264079.5:n.*119G>A | |
| ENST00000264079.10:c.*119G>A | ENSP00000264079.5:n.*119G>A | |
| ENST00000394321.9:n.2177G>A | ||
| ENST00000599334.1:c.590G>A | ||
| ENST00000601870.1:c.169+46G>A | ||
| ENST00000602227.1:n.416G>A | ||
| NM_020533.2:c.*119G>A | NP_065394.1:n.*119G>A | |
| NM_020533.3:c.*119G>A MANE Select | NP_065394.1:n.*119G>A |