Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1495326T>C , CM000681.2:g.1495326T>C | GRCh38 |
| NC_000019.9:g.1495325T>C , CM000681.1:g.1495325T>C | GRCh37 |
| NC_000019.8:g.1446325T>C | NCBI36 |
| NG_055254.1:g.9322T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233596.8:c.148T>C MANE Select | ENSP00000233596.2:p.Phe50Leu | |
| ENST00000395479.10:c.148T>C MANE Plus Clinical | ENSP00000378861.5:p.Phe50Leu | |
| ENST00000233596.7:c.148T>C | ENSP00000233596.2:p.Phe50Leu | |
| ENST00000591735.2:n.252T>C | ||
| NM_138393.1:c.148T>C | NP_612402.1:p.Phe50Leu | |
| NM_001329556.2:c.148T>C | NP_001316485.1:p.Phe50Leu | |
| NM_138393.3:c.148T>C | NP_612402.1:p.Phe50Leu | |
| NM_138393.4:c.148T>C MANE Select | NP_612402.1:p.Phe50Leu | |
| NM_001329556.3:c.148T>C MANE Plus Clinical | NP_001316485.1:p.Phe50Leu |