Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123630416A>G , CM000674.2:g.123630416A>G | GRCh38 |
| NC_000012.11:g.124114963A>G , CM000674.1:g.124114963A>G | GRCh37 |
| NC_000012.10:g.122680916A>G | NCBI36 |
| NG_015862.1:g.8361T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000424014.7:c.233T>C MANE Select | ENSP00000416250.2:p.Leu78Pro | |
| ENST00000424014.6:c.233T>C | ENSP00000416250.2:p.Leu78Pro | |
| ENST00000452159.6:n.364T>C | ||
| ENST00000534960.5:c.280T>C | ||
| ENST00000537073.1:c.233T>C | ENSP00000444183.1:p.Leu78Pro | |
| ENST00000539951.5:c.194T>C | ENSP00000438060.1:p.Leu65Pro | |
| ENST00000543940.1:n.333T>C | ||
| NM_001414.3:c.233T>C | NP_001405.1:p.Leu78Pro | |
| NM_001414.4:c.233T>C MANE Select | NP_001405.1:p.Leu78Pro |