Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94031783C>T , CM000663.2:g.94031783C>T | GRCh38 |
| NC_000001.10:g.94497339C>T , CM000663.1:g.94497339C>T | GRCh37 |
| NC_000001.9:g.94269927C>T | NCBI36 |
| NG_009073.1:g.94367G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.4123G>A MANE Select | ENSP00000359245.3:p.Ala1375Thr | |
| ENST00000370225.3:c.4123G>A | ENSP00000359245.3:p.Ala1375Thr | |
| ENST00000536513.5:c.499G>A | ENSP00000439707.2:p.Ala167Thr | |
| NM_000350.2:c.4123G>A | NP_000341.2:p.Ala1375Thr | |
| NM_000350.3:c.4123G>A MANE Select | NP_000341.2:p.Ala1375Thr |