Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.121048423T>C , CM000685.2:g.121048423T>C | GRCh38 |
| NC_000023.10:g.120182277T>C , CM000685.1:g.120182277T>C | GRCh37 |
| NC_000023.9:g.120009958T>C | NCBI36 |
| NG_016456.1:g.5816T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328078.3:c.739T>C MANE Select | ENSP00000327589.1:p.Tyr247His | |
| ENST00000328078.2:c.739T>C | ENSP00000327589.1:p.Tyr247His | |
| NM_012084.3:c.739T>C | NP_036216.2:p.Tyr247His | |
| NM_012084.4:c.739T>C MANE Select | NP_036216.2:p.Tyr247His |