Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.16993216C>G , CM000670.2:g.16993216C>G | GRCh38 |
| NC_000008.10:g.16850725C>G , CM000670.1:g.16850725C>G | GRCh37 |
| NC_000008.9:g.16895096C>G | NCBI36 |
| NG_015978.1:g.13950G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000180166.6:c.492G>C MANE Select | ENSP00000180166.5:p.Arg164Ser | |
| ENST00000180166.5:c.492G>C | ENSP00000180166.5:p.Arg164Ser | |
| ENST00000519941.1:c.196G>C | ||
| NM_019851.2:c.492G>C | NP_062825.1:p.Arg164Ser | |
| NM_019851.3:c.492G>C MANE Select | NP_062825.1:p.Arg164Ser |