Linked Data
dbSNP Id:
rs1721276486
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.46927742A>G , CM000666.2:g.46927742A>G | GRCh38 |
| NC_000004.11:g.46929759A>G , CM000666.1:g.46929759A>G | GRCh37 |
| NC_000004.10:g.46624516A>G | NCBI36 |
| NG_011809.1:g.70822T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264318.4:c.*483T>C MANE Select | ENSP00000264318.3:n.*483T>C | |
| ENST00000264318.3:c.*483T>C | ENSP00000264318.3:n.*483T>C | |
| NM_000809.3:c.*483T>C | NP_000800.2:n.*483T>C | |
| NM_001204266.1:c.*483T>C | NP_001191195.1:n.*483T>C | |
| NM_001204267.1:c.*483T>C | NP_001191196.1:n.*483T>C | |
| XM_011513677.1:c.*483T>C | XP_011511979.1:n.*483T>C | |
| NM_000809.4:c.*483T>C MANE Select | NP_000800.2:n.*483T>C | |
| NM_001204266.2:c.*483T>C | NP_001191195.1:n.*483T>C | |
| NM_001204267.2:c.*483T>C | NP_001191196.1:n.*483T>C |