Linked Data
dbSNP Id:
rs13124290
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.71030547A>C , CM000666.2:g.71030547A>C | GRCh38 |
| NC_000004.11:g.71896264A>C , CM000666.1:g.71896264A>C | GRCh37 |
| NC_000004.10:g.72115128A>C | NCBI36 |
| NG_023303.1:g.42000A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000286648.10:c.*1169A>C MANE Select | ENSP00000286648.5:n.*1169A>C | |
| ENST00000286648.9:c.*1169A>C | ENSP00000286648.5:n.*1169A>C | |
| ENST00000503359.5:c.*1896A>C | ENSP00000426389.1:n.*1896A>C | |
| ENST00000504730.5:c.*1236A>C | ENSP00000425578.1:n.*1236A>C | |
| ENST00000504952.1:c.*1095A>C | ENSP00000421508.1:n.*1095A>C | |
| NM_000788.2:c.*1169A>C | NP_000779.1:n.*1169A>C | |
| NM_000788.3:c.*1169A>C MANE Select | NP_000779.1:n.*1169A>C |