Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29328389G>C , CM000664.2:g.29328389G>C | GRCh38 |
| NC_000002.11:g.29551255G>C , CM000664.1:g.29551255G>C | GRCh37 |
| NC_000002.10:g.29404759G>C | NCBI36 |
| NG_009445.1:g.598178C>G , LRG_488:g.598178C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004304.5:c.1375C>G MANE Select | NP_004295.2:p.Gln459Glu |
| ENST00000389048.8:c.1375C>G MANE Select | ENSP00000373700.3:p.Gln459Glu |
| NM_004304.4:c.1375C>G | NP_004295.2:p.Gln459Glu |
| ENST00000389048.7:c.1375C>G | ENSP00000373700.3:p.Gln459Glu |
| ENST00000618119.4:c.244C>G | ENSP00000482733.1:p.Gln82Glu |
| XR_001738688.2:n.2305C>G | |
| XR_939920.1:n.697G>C | |
| XR_939920.2:n.587G>C | |
| XR_939921.1:n.680+5861G>C | |
| XR_939921.2:n.576+5861G>C |