Linked Data
dbSNP Id:
rs2116441033
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.131215384T>C , CM000669.2:g.131215384T>C | GRCh38 |
| NC_000007.13:g.130900143T>C , CM000669.1:g.130900143T>C | GRCh37 |
| NC_000007.12:g.130550683T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000416992.6:c.-179+12410T>C | ENSP00000387920.1:n.-179+12410T>C | |
| ENST00000421797.6:c.-179+72443T>C | ENSP00000398094.2:n.-179+72443T>C | |
| NM_001145354.1:c.29+72443T>C | NP_001138826.1:n.29+72443T>C | |
| XM_024446767.1:c.-179+12410T>C | XP_024302535.1:n.-179+12410T>C | |
| NM_001145354.2:c.29+72443T>C | NP_001138826.1:n.29+72443T>C |