Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110602140C>A , CM000672.2:g.110602140C>A | GRCh38 |
| NC_000010.10:g.112361898C>A , CM000672.1:g.112361898C>A | GRCh37 |
| NC_000010.9:g.112351888C>A | NCBI36 |
| NG_012217.1:g.39450C>A , LRG_774:g.39450C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684988.1:n.5300C>A | ||
| ENST00000685743.1:n.2775C>A | ||
| ENST00000686057.1:n.1418C>A | ||
| ENST00000689321.1:n.2030C>A | ||
| ENST00000689986.1:n.856C>A | ||
| ENST00000361804.5:c.3067C>A MANE Select | ENSP00000354720.5:p.Leu1023Ile | |
| ENST00000361804.4:c.3067C>A | ENSP00000354720.4:p.Leu1023Ile | |
| NM_005445.3:c.3067C>A , LRG_774t1:c.3067C>A | NP_005436.1:p.Leu1023Ile | |
| NM_005445.4:c.3067C>A MANE Select | NP_005436.1:p.Leu1023Ile |