Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29227037A>C , CM000664.2:g.29227037A>C | GRCh38 |
| NC_000002.11:g.29449903A>C , CM000664.1:g.29449903A>C | GRCh37 |
| NC_000002.10:g.29303407A>C | NCBI36 |
| NG_009445.1:g.699530T>G , LRG_488:g.699530T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004304.5:c.2952T>G MANE Select | NP_004295.2:p.Tyr984Ter |
| ENST00000389048.8:c.2952T>G MANE Select | ENSP00000373700.3:p.Tyr984Ter |
| NM_004304.4:c.2952T>G | NP_004295.2:p.Tyr984Ter |
| ENST00000389048.7:c.2952T>G | ENSP00000373700.3:p.Tyr984Ter |
| ENST00000431873.6:c.118T>G | |
| ENST00000618119.4:c.1821T>G | ENSP00000482733.1:p.Tyr607Ter |
| XM_024452778.1:c.105T>G | XP_024308546.1:p.Tyr35Ter |
| XR_001738688.2:n.3808T>G |