Linked Data
dbSNP Id:
rs2032370318
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94989125A>C , CM000672.2:g.94989125A>C | GRCh38 |
| NC_000010.10:g.96748882A>C , CM000672.1:g.96748882A>C | GRCh37 |
| NC_000010.9:g.96738872A>C | NCBI36 |
| NG_008385.1:g.55468A>C | |
| NG_008385.2:g.55968A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260682.8:c.*97A>C MANE Select | ENSP00000260682.6:n.*97A>C | |
| ENST00000643112.1:c.*579A>C | ENSP00000496202.1:n.*579A>C | |
| ENST00000260682.6:c.*97A>C | ENSP00000260682.6:n.*97A>C | |
| NM_000771.3:c.*97A>C | NP_000762.2:n.*97A>C | |
| NM_000771.4:c.*97A>C MANE Select | NP_000762.2:n.*97A>C |