Linked Data
dbSNP Id:
rs1958589053
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.955302C>T , CM000674.2:g.955302C>T | GRCh38 |
| NC_000012.11:g.1064468C>T , CM000674.1:g.1064468C>T | GRCh37 |
| NC_000012.10:g.934729C>T | NCBI36 |
| NG_017078.2:g.39740G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000430095.6:c.-18-22226G>A | ENSP00000387901.2:n.-18-22226G>A | |
| NM_001297419.1:c.-18-22226G>A | NP_001284348.1:n.-18-22226G>A | |
| XM_005253720.3:c.-18-22226G>A | XP_005253777.1:n.-18-22226G>A | |
| XM_005253720.5:c.-18-22226G>A | XP_005253777.1:n.-18-22226G>A | |
| XM_017019769.1:c.-18-22226G>A | XP_016875258.1:n.-18-22226G>A |