Linked Data
dbSNP Id:
rs75895956
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29227061G>C , CM000664.2:g.29227061G>C | GRCh38 |
| NC_000002.11:g.29449927G>C , CM000664.1:g.29449927G>C | GRCh37 |
| NC_000002.10:g.29303431G>C | NCBI36 |
| NG_009445.1:g.699506C>G , LRG_488:g.699506C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.2928C>G MANE Select | ENSP00000373700.3:p.His976Gln | |
| ENST00000431873.6:c.94C>G | ||
| ENST00000389048.7:c.2928C>G | ENSP00000373700.3:p.His976Gln | |
| ENST00000618119.4:c.1797C>G | ENSP00000482733.1:p.His599Gln | |
| NM_004304.4:c.2928C>G | NP_004295.2:p.His976Gln | |
| XM_024452778.1:c.81C>G | XP_024308546.1:p.His27Gln | |
| XR_001738688.2:n.3784C>G | ||
| NM_004304.5:c.2928C>G MANE Select | NP_004295.2:p.His976Gln |