Linked Data
dbSNP Id:
rs957595276
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.14208784G>C , CM000679.2:g.14208784G>C | GRCh38 |
| NC_000017.10:g.14112101G>C , CM000679.1:g.14112101G>C | GRCh37 |
| NC_000017.9:g.14052826G>C | NCBI36 |
| NG_008034.1:g.144383G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000664217.1:c.*281+5G>C | ENSP00000499396.1:n.*281+5G>C | |
| ENST00000670279.1:c.929-725G>C | ENSP00000499450.1:n.929-725G>C | |
| XR_933974.1:n.1032-725G>C |