Linked Data
dbSNP Id:
rs771647323
ExAC:
19:7598797 G / A
gnomAD v2:
19-7598797-G-A
gnomAD v3:
19-7533911-G-A
gnomAD v4:
19-7533911-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7533911G>A , CM000681.2:g.7533911G>A | GRCh38 |
| NC_000019.9:g.7598797G>A , CM000681.1:g.7598797G>A | GRCh37 |
| NC_000019.8:g.7504797G>A | NCBI36 |
| NG_013374.1:g.4760G>A | |
| NG_015806.1:g.16302G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.*116G>A MANE Select | ENSP00000264079.5:n.*116G>A | |
| ENST00000264079.10:c.*116G>A | ENSP00000264079.5:n.*116G>A | |
| ENST00000394321.9:n.2174G>A | ||
| ENST00000599334.1:c.587G>A | ||
| ENST00000601870.1:c.169+43G>A | ||
| ENST00000602227.1:n.413G>A | ||
| NM_020533.2:c.*116G>A | NP_065394.1:n.*116G>A | |
| NM_020533.3:c.*116G>A MANE Select | NP_065394.1:n.*116G>A |