Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.2434440G>T , CM000681.2:g.2434440G>T | GRCh38 |
| NC_000019.9:g.2434438G>T , CM000681.1:g.2434438G>T | GRCh37 |
| NC_000019.8:g.2385438G>T | NCBI36 |
| NG_008355.1:g.27521C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_032737.4:c.1057C>A MANE Select | NP_116126.3:p.Leu353Met |
| ENST00000325327.4:c.1057C>A MANE Select | ENSP00000327054.3:p.Leu353Met |
| NM_032737.3:c.1057C>A | NP_116126.3:p.Leu353Met |
| ENST00000325327.3:c.1057C>A | ENSP00000327054.3:p.Leu353Met |
| ENST00000490554.5:n.248C>A | |
| ENST00000527409.1:n.693C>A | |
| XM_011528378.1:c.1057C>A | XP_011526680.1:p.Leu353Met |
| XM_011528379.1:c.709C>A | XP_011526681.1:p.Leu237Met |