Linked Data
dbSNP Id:
rs2148178408
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29226961G>C , CM000664.2:g.29226961G>C | GRCh38 |
| NC_000002.11:g.29449827G>C , CM000664.1:g.29449827G>C | GRCh37 |
| NC_000002.10:g.29303331G>C | NCBI36 |
| NG_009445.1:g.699606C>G , LRG_488:g.699606C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.3028C>G MANE Select | ENSP00000373700.3:p.His1010Asp | |
| ENST00000431873.6:c.194C>G | ||
| ENST00000389048.7:c.3028C>G | ENSP00000373700.3:p.His1010Asp | |
| ENST00000618119.4:c.1897C>G | ENSP00000482733.1:p.His633Asp | |
| NM_004304.4:c.3028C>G | NP_004295.2:p.His1010Asp | |
| XM_024452778.1:c.181C>G | XP_024308546.1:p.His61Asp | |
| XR_001738688.2:n.3884C>G | ||
| NM_004304.5:c.3028C>G MANE Select | NP_004295.2:p.His1010Asp |