Linked Data
dbSNP Id:
rs1224104118
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.112830754T>G , CM000664.2:g.112830754T>G | GRCh38 |
| NC_000002.11:g.113588331T>G , CM000664.1:g.113588331T>G | GRCh37 |
| NC_000002.10:g.113304802T>G | NCBI36 |
| NG_008851.1:g.11026A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263341.7:c.598-181A>C MANE Select | ENSP00000263341.2:n.598-181A>C | |
| ENST00000263341.6:c.598-181A>C | ENSP00000263341.2:n.598-181A>C | |
| ENST00000491056.5:n.1405-181A>C | ||
| NM_000576.2:c.598-181A>C | NP_000567.1:n.598-181A>C | |
| XM_006712496.1:c.364-181A>C | XP_006712559.1:n.364-181A>C | |
| XM_017003988.2:c.505-181A>C | XP_016859477.1:n.505-181A>C | |
| NM_000576.3:c.598-181A>C MANE Select | NP_000567.1:n.598-181A>C |