Linked Data
dbSNP Id:
rs752085420
ExAC:
10:112349710 T / A
gnomAD v2:
10-112349710-T-A
gnomAD v4:
10-110589952-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110589952T>A , CM000672.2:g.110589952T>A | GRCh38 |
| NC_000010.10:g.112349710T>A , CM000672.1:g.112349710T>A | GRCh37 |
| NC_000010.9:g.112339700T>A | NCBI36 |
| NG_012217.1:g.27262T>A , LRG_774:g.27262T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684797.1:n.1370T>A | ||
| ENST00000684988.1:n.2115T>A | ||
| ENST00000687823.1:n.1384T>A | ||
| ENST00000689932.1:n.3533T>A | ||
| ENST00000691297.1:n.1603T>A | ||
| ENST00000691527.1:n.2273T>A | ||
| ENST00000692792.1:n.1589T>A | ||
| ENST00000361804.5:c.1470T>A MANE Select | ENSP00000354720.5:p.Leu490= | |
| ENST00000361804.4:c.1470T>A | ENSP00000354720.4:p.Leu490= | |
| NM_005445.3:c.1470T>A , LRG_774t1:c.1470T>A | NP_005436.1:p.Leu490= | |
| NM_005445.4:c.1470T>A MANE Select | NP_005436.1:p.Leu490= |