Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110589897T>A , CM000672.2:g.110589897T>A | GRCh38 |
| NC_000010.10:g.112349655T>A , CM000672.1:g.112349655T>A | GRCh37 |
| NC_000010.9:g.112339645T>A | NCBI36 |
| NG_012217.1:g.27207T>A , LRG_774:g.27207T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684797.1:n.1315T>A | ||
| ENST00000684988.1:n.2060T>A | ||
| ENST00000687823.1:n.1329T>A | ||
| ENST00000689932.1:n.3478T>A | ||
| ENST00000691297.1:n.1548T>A | ||
| ENST00000691527.1:n.2218T>A | ||
| ENST00000692792.1:n.1534T>A | ||
| ENST00000361804.5:c.1415T>A MANE Select | ENSP00000354720.5:p.Leu472Ter | |
| ENST00000361804.4:c.1415T>A | ENSP00000354720.4:p.Leu472Ter | |
| NM_005445.3:c.1415T>A , LRG_774t1:c.1415T>A | NP_005436.1:p.Leu472Ter | |
| NM_005445.4:c.1415T>A MANE Select | NP_005436.1:p.Leu472Ter |