Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.151181199T>A , CM000685.2:g.151181199T>A | GRCh38 |
| NC_000023.10:g.150349671T>A , CM000685.1:g.150349671T>A | GRCh37 |
| NC_000023.9:g.150100329T>A | NCBI36 |
| NG_016405.1:g.9616T>A | |
| NG_016405.2:g.9616T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218316.4:c.1616T>A MANE Select | ENSP00000218316.3:p.Leu539His | |
| ENST00000218316.3:c.1616T>A | ENSP00000218316.3:p.Leu539His | |
| ENST00000617907.1:c.1610T>A | ENSP00000484496.1:p.Leu537His | |
| NM_004224.3:c.1616T>A MANE Select | NP_004215.2:p.Leu539His | |
| XM_011531216.1:c.875T>A | XP_011529518.1:p.Leu292His | |
| XM_011531216.2:c.875T>A | XP_011529518.1:p.Leu292His |