Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.152120699C>T , CM000664.2:g.152120699C>T | GRCh38 |
| NC_000002.11:g.152977213C>T , CM000664.1:g.152977213C>T | GRCh37 |
| NC_000002.10:g.152685459C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005843.6:c.1453G>A MANE Select | NP_005834.4:p.Val485Met |
| ENST00000263904.5:c.1453G>A MANE Select | ENSP00000263904.4:p.Val485Met |
| NM_005843.5:c.1453G>A | NP_005834.4:p.Val485Met |
| ENST00000263904.4:c.1453G>A | ENSP00000263904.4:p.Val485Met |
| ENST00000489389.1:n.1025G>A | |
| XR_001738586.1:n.1434G>A | |
| XR_922831.1:n.1588G>A |