Linked Data
dbSNP Id:
rs2077945537
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17018855A>G , CM000663.2:g.17018855A>G | GRCh38 |
| NC_000001.10:g.17345350A>G , CM000663.1:g.17345350A>G | GRCh37 |
| NC_000001.9:g.17217937A>G | NCBI36 |
| NG_012340.1:g.40316T>C , LRG_316:g.40316T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000463045.3:c.*26T>C | ENSP00000481376.2:n.*26T>C | |
| ENST00000491274.6:c.*26T>C | ENSP00000480482.2:n.*26T>C | |
| ENST00000375499.8:c.*26T>C MANE Select | ENSP00000364649.3:n.*26T>C | |
| ENST00000375499.7:c.*26T>C | ENSP00000364649.3:n.*26T>C | |
| ENST00000475049.5:n.294T>C | ||
| ENST00000485092.5:n.533T>C | ||
| NM_003000.2:c.*26T>C , LRG_316t1:c.*26T>C | NP_002991.2:n.*26T>C | |
| NM_003000.3:c.*26T>C MANE Select | NP_002991.2:n.*26T>C |