Linked Data
ClinVar Variation Id:
14774
ClinVar RCV Id:
RCV000015897
dbSNP Id:
rs121912451
ExAC:
21:33040830 G / A
gnomAD v2:
21-33040830-G-A
gnomAD v4:
21-31668517-G-A
PubMed:
PMID:8990014
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.31668517G>A , CM000683.2:g.31668517G>A | GRCh38 |
| NC_000021.8:g.33040830G>A , CM000683.1:g.33040830G>A | GRCh37 |
| NC_000021.7:g.31962701G>A | NCBI36 |
| NG_008689.1:g.13896G>A , LRG_652:g.13896G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270142.11:c.404G>A MANE Select | ENSP00000270142.7:p.Ser135Asn | |
| ENST00000270142.10:c.404G>A | ENSP00000270142.6:p.Ser135Asn | |
| ENST00000389995.4:c.347G>A | ENSP00000374645.4:p.Ser116Asn | |
| ENST00000470944.1:n.1332G>A | ||
| NM_000454.4:c.404G>A , LRG_652t1:c.404G>A | NP_000445.1:p.Ser135Asn | |
| NM_000454.5:c.404G>A MANE Select | NP_000445.1:p.Ser135Asn |