Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.18130757G>T , CM000668.2:g.18130757G>T | GRCh38 |
| NC_000006.11:g.18130988G>T , CM000668.1:g.18130988G>T | GRCh37 |
| NC_000006.10:g.18238967G>T | NCBI36 |
| NG_012137.2:g.29387C>A | |
| NG_012137.3:g.29387C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309983.5:c.649C>A MANE Select | ENSP00000312304.4:p.Leu217Ile | |
| ENST00000309983.4:c.649C>A | ENSP00000312304.4:p.Leu217Ile | |
| NM_000367.3:c.649C>A | NP_000358.1:p.Leu217Ile | |
| XM_011514839.1:c.604C>A | XP_011513141.1:p.Leu202Ile | |
| XM_011514840.1:c.580C>A | XP_011513142.1:p.Leu194Ile | |
| NM_000367.4:c.649C>A | NP_000358.1:p.Leu217Ile | |
| NM_001346817.1:c.649C>A | NP_001333746.1:p.Leu217Ile | |
| NM_001346818.1:c.604C>A | NP_001333747.1:p.Leu202Ile | |
| NM_000367.5:c.649C>A MANE Select | NP_000358.1:p.Leu217Ile |