Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.103277773G>C , CM000672.2:g.103277773G>C | GRCh38 |
| NC_000010.10:g.105037530G>C , CM000672.1:g.105037530G>C | GRCh37 |
| NC_000010.9:g.105027520G>C | NCBI36 |
| NG_012318.1:g.5611G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369849.9:c.562G>C MANE Select | ENSP00000358865.4:p.Gly188Arg | |
| ENST00000369849.8:c.562G>C | ENSP00000358865.4:p.Gly188Arg | |
| ENST00000616853.1:c.556G>C | ENSP00000481793.1:p.Gly186Arg | |
| NM_032727.3:c.562G>C | NP_116116.1:p.Gly188Arg | |
| NM_032727.4:c.562G>C MANE Select | NP_116116.1:p.Gly188Arg |