Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.27924265A>T , CM000675.2:g.27924265A>T | GRCh38 |
| NC_000013.10:g.28498402A>T , CM000675.1:g.28498402A>T | GRCh37 |
| NC_000013.9:g.27396402A>T | NCBI36 |
| NG_008183.1:g.9235A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381033.5:c.416A>T MANE Select | ENSP00000370421.4:p.Tyr139Phe | |
| ENST00000381033.4:c.416A>T | ENSP00000370421.4:p.Tyr139Phe | |
| NM_000209.3:c.416A>T | NP_000200.1:p.Tyr139Phe | |
| XR_941578.1:n.3543A>T | ||
| XR_941579.1:n.2142A>T | ||
| XR_941580.1:n.1058A>T | ||
| XR_941578.2:n.3555A>T | ||
| XR_941580.2:n.1070A>T | ||
| NM_000209.4:c.416A>T MANE Select | NP_000200.1:p.Tyr139Phe |