Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.86568306G>T , CM000678.2:g.86568306G>T | GRCh38 |
| NC_000016.9:g.86601912G>T , CM000678.1:g.86601912G>T | GRCh37 |
| NC_000016.8:g.85159413G>T | NCBI36 |
| NG_012025.1:g.6056G>T | |
| NG_012025.2:g.6478G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649859.1:c.971G>T MANE Select | ENSP00000497759.1:p.Gly324Val | |
| ENST00000320354.5:c.971G>T | ENSP00000326371.4:p.Gly324Val | |
| NM_005251.2:c.971G>T | NP_005242.1:p.Gly324Val | |
| NM_005251.3:c.971G>T MANE Select | NP_005242.1:p.Gly324Val |