Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.58576740G>T , CM000663.2:g.58576740G>T | GRCh38 |
| NC_000001.10:g.59042412G>T , CM000663.1:g.59042412G>T | GRCh37 |
| NC_000001.9:g.58815000G>T | NCBI36 |
| NG_016237.1:g.5755C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371225.4:c.417C>A MANE Select | ENSP00000360269.2:p.Gly139= | |
| ENST00000371225.3:c.417C>A | ENSP00000360269.2:p.Gly139= | |
| NM_002353.2:c.417C>A | NP_002344.2:p.Gly139= | |
| NM_002353.3:c.417C>A MANE Select | NP_002344.2:p.Gly139= |