Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110602072T>A , CM000672.2:g.110602072T>A | GRCh38 |
| NC_000010.10:g.112361830T>A , CM000672.1:g.112361830T>A | GRCh37 |
| NC_000010.9:g.112351820T>A | NCBI36 |
| NG_012217.1:g.39382T>A , LRG_774:g.39382T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684988.1:n.5232T>A | ||
| ENST00000685743.1:n.2707T>A | ||
| ENST00000686057.1:n.1350T>A | ||
| ENST00000689321.1:n.1962T>A | ||
| ENST00000689986.1:n.788T>A | ||
| ENST00000361804.5:c.2999T>A MANE Select | ENSP00000354720.5:p.Leu1000Ter | |
| ENST00000361804.4:c.2999T>A | ENSP00000354720.4:p.Leu1000Ter | |
| NM_005445.3:c.2999T>A , LRG_774t1:c.2999T>A | NP_005436.1:p.Leu1000Ter | |
| NM_005445.4:c.2999T>A MANE Select | NP_005436.1:p.Leu1000Ter |