Linked Data
dbSNP Id:
rs28628459
gnomAD v2:
15-101812357-T-C
gnomAD v3:
15-101272152-T-C
gnomAD v4:
15-101272152-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.101272152T>C , CM000677.2:g.101272152T>C | GRCh38 |
| NC_000015.9:g.101812357T>C , CM000677.1:g.101812357T>C | GRCh37 |
| NC_000015.8:g.99629880T>C | NCBI36 |
| NG_013322.1:g.10344A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000398226.7:c.*8-507A>G | ENSP00000381282.3:n.*8-507A>G | |
| ENST00000531964.5:c.*8-507A>G | ENSP00000433803.1:n.*8-507A>G | |
| NM_203472.2:c.*14-507A>G | NP_982298.2:n.*14-507A>G | |
| NM_203472.3:c.*14-507A>G | NP_982298.2:n.*14-507A>G |