Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.59443718C>A , CM000673.2:g.59443718C>A | GRCh38 |
| NC_000011.9:g.59211191C>A , CM000673.1:g.59211191C>A | GRCh37 |
| NC_000011.8:g.58967767C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000641045.1:c.550C>A MANE Select | ENSP00000493195.1:p.Leu184Ile | |
| ENST00000302030.2:c.550C>A | ENSP00000303096.2:p.Leu184Ile | |
| NM_001004728.1:c.550C>A | NP_001004728.1:p.Leu184Ile | |
| XM_011544810.1:c.550C>A | XP_011543112.1:p.Leu184Ile | |
| NM_001004728.2:c.550C>A MANE Select | NP_001004728.1:p.Leu184Ile |