Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.216122175A>T , CM000664.2:g.216122175A>T | GRCh38 |
| NC_000002.11:g.216986898A>T , CM000664.1:g.216986898A>T | GRCh37 |
| NC_000002.10:g.216695143A>T | NCBI36 |
| NG_029780.1:g.17879A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392132.7:c.605A>T MANE Select | ENSP00000375977.2:p.Lys202Ile | |
| ENST00000392132.6:c.605A>T | ENSP00000375977.2:p.Lys202Ile | |
| ENST00000392133.7:c.605A>T | ENSP00000375978.3:p.Lys202Ile | |
| ENST00000460284.5:n.1147A>T | ||
| NM_021141.3:c.605A>T | NP_066964.1:p.Lys202Ile | |
| NM_021141.4:c.605A>T MANE Select | NP_066964.1:p.Lys202Ile |