Linked Data
ClinVar Variation Id:
25220
ClinVar RCV Id:
RCV000022156
dbSNP Id:
rs111033734
gnomAD v3:
9-34648344-G-A
gnomAD v4:
9-34648344-G-A
PubMed:
PMID:7887416
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34648344G>A , CM000671.2:g.34648344G>A | GRCh38 |
| NC_000009.11:g.34648341G>A , CM000671.1:g.34648341G>A | GRCh37 |
| NC_000009.10:g.34638341G>A | NCBI36 |
| NG_009029.1:g.6707G>A | |
| NG_028966.1:g.1160G>A | |
| NG_009029.2:g.6756G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000691183.1:c.*163G>A | ENSP00000509954.1:n.*163G>A | |
| ENST00000378842.8:c.575G>A MANE Select | ENSP00000368119.4:p.Ser192Asn | |
| ENST00000378842.7:c.575G>A | ENSP00000368119.3:p.Ser192Asn | |
| ENST00000450095.6:c.248G>A | ENSP00000401956.2:p.Ser83Asn | |
| ENST00000472111.5:n.831G>A | ||
| ENST00000473506.6:c.*163G>A | ENSP00000432839.2:n.*163G>A | |
| ENST00000473529.5:n.734G>A | ||
| ENST00000485531.1:n.1169G>A | ||
| ENST00000487381.5:n.960G>A | ||
| ENST00000489643.6:n.350G>A | ||
| ENST00000554085.5:c.*319G>A | ENSP00000450419.1:n.*319G>A | |
| ENST00000554139.5:n.821G>A | ||
| ENST00000554550.5:c.*195G>A | ENSP00000451435.1:n.*195G>A | |
| ENST00000554638.5:n.1047G>A | ||
| ENST00000554897.5:c.*262G>A | ENSP00000450942.1:n.*262G>A | |
| ENST00000554944.5:n.924G>A | ||
| ENST00000555020.5:n.731G>A | ||
| ENST00000555086.5:n.579G>A | ||
| ENST00000555214.5:n.396G>A | ||
| ENST00000556244.1:c.562G>A | ||
| ENST00000556278.1:c.320G>A | ENSP00000451792.1:p.Ser107Asn | |
| ENST00000556494.5:n.696G>A | ||
| ENST00000557706.5:n.1137G>A | ||
| NM_000155.3:c.575G>A | NP_000146.2:p.Ser192Asn | |
| NM_001258332.1:c.248G>A | NP_001245261.1:p.Ser83Asn | |
| NM_000155.4:c.575G>A MANE Select | NP_000146.2:p.Ser192Asn | |
| NM_001258332.2:c.248G>A | NP_001245261.1:p.Ser83Asn |