Linked Data
dbSNP Id:
rs2032370673
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94989160T>C , CM000672.2:g.94989160T>C | GRCh38 |
| NC_000010.10:g.96748917T>C , CM000672.1:g.96748917T>C | GRCh37 |
| NC_000010.9:g.96738907T>C | NCBI36 |
| NG_008385.1:g.55503T>C | |
| NG_008385.2:g.56003T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260682.8:c.*132T>C MANE Select | ENSP00000260682.6:n.*132T>C | |
| ENST00000643112.1:c.*614T>C | ENSP00000496202.1:n.*614T>C | |
| ENST00000260682.6:c.*132T>C | ENSP00000260682.6:n.*132T>C | |
| NM_000771.3:c.*132T>C | NP_000762.2:n.*132T>C | |
| NM_000771.4:c.*132T>C MANE Select | NP_000762.2:n.*132T>C |