Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29225498C>T , CM000664.2:g.29225498C>T | GRCh38 |
| NC_000002.11:g.29448364C>T , CM000664.1:g.29448364C>T | GRCh37 |
| NC_000002.10:g.29301868C>T | NCBI36 |
| NG_009445.1:g.701069G>A , LRG_488:g.701069G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004304.5:c.3135G>A MANE Select | NP_004295.2:p.Val1045= |
| ENST00000389048.8:c.3135G>A MANE Select | ENSP00000373700.3:p.Val1045= |
| NM_004304.4:c.3135G>A | NP_004295.2:p.Val1045= |
| ENST00000389048.7:c.3135G>A | ENSP00000373700.3:p.Val1045= |
| ENST00000431873.6:c.301G>A | |
| ENST00000618119.4:c.2004G>A | ENSP00000482733.1:p.Val668= |
| XM_024452778.1:c.288G>A | XP_024308546.1:p.Val96= |
| XM_024452779.1:c.-1220G>A | XP_024308547.1:n.-1220G>A |
| XR_001738688.2:n.3991G>A |