Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.18130689T>A , CM000668.2:g.18130689T>A | GRCh38 |
| NC_000006.11:g.18130920T>A , CM000668.1:g.18130920T>A | GRCh37 |
| NC_000006.10:g.18238899T>A | NCBI36 |
| NG_012137.2:g.29455A>T | |
| NG_012137.3:g.29455A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000309983.5:c.717A>T MANE Select | ENSP00000312304.4:p.Leu239Phe | |
| ENST00000309983.4:c.717A>T | ENSP00000312304.4:p.Leu239Phe | |
| NM_000367.3:c.717A>T | NP_000358.1:p.Leu239Phe | |
| XM_011514839.1:c.672A>T | XP_011513141.1:p.Leu224Phe | |
| XM_011514840.1:c.648A>T | XP_011513142.1:p.Leu216Phe | |
| NM_000367.4:c.717A>T | NP_000358.1:p.Leu239Phe | |
| NM_001346817.1:c.717A>T | NP_001333746.1:p.Leu239Phe | |
| NM_001346818.1:c.672A>T | NP_001333747.1:p.Leu224Phe | |
| NM_000367.5:c.717A>T MANE Select | NP_000358.1:p.Leu239Phe |