Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110578706G>T , CM000672.2:g.110578706G>T | GRCh38 |
| NC_000010.10:g.112338464G>T , CM000672.1:g.112338464G>T | GRCh37 |
| NC_000010.9:g.112328454G>T | NCBI36 |
| NG_012217.1:g.16016G>T , LRG_774:g.16016G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684988.1:n.562G>T | ||
| ENST00000687823.1:n.343G>T | ||
| ENST00000689932.1:n.2492G>T | ||
| ENST00000691297.1:n.562G>T | ||
| ENST00000691527.1:n.1232G>T | ||
| ENST00000692792.1:n.548G>T | ||
| ENST00000361804.5:c.429G>T MANE Select | ENSP00000354720.5:p.Lys143Asn | |
| ENST00000361804.4:c.429G>T | ENSP00000354720.4:p.Lys143Asn | |
| ENST00000462899.1:n.575G>T | ||
| NM_005445.3:c.429G>T , LRG_774t1:c.429G>T | NP_005436.1:p.Lys143Asn | |
| NM_005445.4:c.429G>T MANE Select | NP_005436.1:p.Lys143Asn |