Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29227007T>C , CM000664.2:g.29227007T>C | GRCh38 |
| NC_000002.11:g.29449873T>C , CM000664.1:g.29449873T>C | GRCh37 |
| NC_000002.10:g.29303377T>C | NCBI36 |
| NG_009445.1:g.699560A>G , LRG_488:g.699560A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.2982A>G MANE Select | ENSP00000373700.3:p.Glu994= | |
| ENST00000431873.6:c.148A>G | ||
| ENST00000389048.7:c.2982A>G | ENSP00000373700.3:p.Glu994= | |
| ENST00000618119.4:c.1851A>G | ENSP00000482733.1:p.Glu617= | |
| NM_004304.4:c.2982A>G | NP_004295.2:p.Glu994= | |
| XM_024452778.1:c.135A>G | XP_024308546.1:p.Glu45= | |
| XR_001738688.2:n.3838A>G | ||
| NM_004304.5:c.2982A>G MANE Select | NP_004295.2:p.Glu994= |