Linked Data
dbSNP Id:
rs2127336451
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.55283361A>C , CM000668.2:g.55283361A>C | GRCh38 |
| NC_000006.11:g.55148159A>C , CM000668.1:g.55148159A>C | GRCh37 |
| NC_000006.10:g.55256118A>C | NCBI36 |
| NG_012447.1:g.114089A>C | |
| NG_012447.2:g.181902A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_017010798.1:c.1331+911A>C | XP_016866287.1:n.1331+911A>C |