Linked Data
dbSNP Id:
rs2138694662
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32315464T>G , CM000675.2:g.32315464T>G | GRCh38 |
| NC_000013.10:g.32889601T>G , CM000675.1:g.32889601T>G | GRCh37 |
| NC_000013.9:g.31787601T>G | NCBI36 |
| NG_012772.3:g.4985T>G , LRG_293:g.4985T>G | |
| NG_017006.1:g.1491A>C | |
| NG_017006.2:g.4900A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000544455.6:c.-40+319T>G | ENSP00000439902.1:n.-40+319T>G | |
| XM_011535203.1:c.-40+319T>G | XP_011533505.1:n.-40+319T>G |