Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.93996194A>T , CM000663.2:g.93996194A>T | GRCh38 |
| NC_000001.10:g.94461750A>T , CM000663.1:g.94461750A>T | GRCh37 |
| NC_000001.9:g.94234338A>T | NCBI36 |
| NG_009073.1:g.129956T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000350.3:c.6731T>A MANE Select | NP_000341.2:p.Val2244Glu |
| ENST00000370225.4:c.6731T>A MANE Select | ENSP00000359245.3:p.Val2244Glu |
| NM_000350.2:c.6731T>A | NP_000341.2:p.Val2244Glu |
| ENST00000370225.3:c.6731T>A | ENSP00000359245.3:p.Val2244Glu |
| ENST00000536513.5:c.3107T>A | ENSP00000439707.2:p.Val1036Glu |