Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154993093G>T , CM000685.2:g.154993093G>T | GRCh38 |
| NC_000023.10:g.154221368G>T , CM000685.1:g.154221368G>T | GRCh37 |
| NC_000023.9:g.153874562G>T | NCBI36 |
| NG_011403.1:g.34631C>A | |
| NG_011403.2:g.34631C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.444C>A MANE Select | ENSP00000353393.4:p.Phe148Leu | |
| ENST00000647125.1:c.*230C>A | ENSP00000496062.1:n.*230C>A | |
| ENST00000360256.8:c.444C>A | ENSP00000353393.4:p.Phe148Leu | |
| ENST00000423959.5:c.339C>A | ENSP00000409446.1:p.Phe113Leu | |
| ENST00000453950.1:c.426C>A | ENSP00000389153.1:p.Phe142Leu | |
| NM_000132.3:c.444C>A | NP_000123.1:p.Phe148Leu | |
| XM_011531126.1:c.339C>A | XP_011529428.1:p.Phe113Leu | |
| NM_000132.4:c.444C>A MANE Select | NP_000123.1:p.Phe148Leu |