Linked Data
ClinVar Variation Id:
55985
dbSNP Id:
rs386833467
gnomAD v4:
7-107776498-A-T
PubMed:
PMID:11302976
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107776498A>T , CM000669.2:g.107776498A>T | GRCh38 |
| NC_000007.13:g.107416943A>T , CM000669.1:g.107416943A>T | GRCh37 |
| NC_000007.12:g.107204179A>T | NCBI36 |
| NG_008046.1:g.31736T>A , LRG_683:g.31736T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340010.10:c.1631T>A MANE Select | ENSP00000345873.5:p.Ile544Asn | |
| ENST00000340010.9:c.1631T>A | ENSP00000345873.5:p.Ile544Asn | |
| ENST00000379083.7:c.*1422T>A | ENSP00000368375.3:n.*1422T>A | |
| ENST00000469651.1:n.163T>A | ||
| NM_000111.2:c.1631T>A , LRG_683t1:c.1631T>A | NP_000102.1:p.Ile544Asn | |
| XM_011515867.1:c.1631T>A | XP_011514169.1:p.Ile544Asn | |
| NM_000111.3:c.1631T>A MANE Select | NP_000102.1:p.Ile544Asn |