Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94040048A>T , CM000663.2:g.94040048A>T | GRCh38 |
| NC_000001.10:g.94505604A>T , CM000663.1:g.94505604A>T | GRCh37 |
| NC_000001.9:g.94278192A>T | NCBI36 |
| NG_009073.1:g.86102T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000350.3:c.3602T>A MANE Select | NP_000341.2:p.Leu1201Gln |
| ENST00000370225.4:c.3602T>A MANE Select | ENSP00000359245.3:p.Leu1201Gln |
| NM_000350.2:c.3602T>A | NP_000341.2:p.Leu1201Gln |
| ENST00000370225.3:c.3602T>A | ENSP00000359245.3:p.Leu1201Gln |
| ENST00000536513.5:c.-23T>A | ENSP00000439707.2:n.-23T>A |