Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.22033075G>T , CM000685.2:g.22033075G>T | GRCh38 |
| NC_000023.10:g.22051193G>T , CM000685.1:g.22051193G>T | GRCh37 |
| NC_000023.9:g.21961114G>T | NCBI36 |
| NG_007563.2:g.5273G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475778.2:n.496G>T | ||
| ENST00000683214.1:n.496G>T | ||
| ENST00000684143.1:c.70G>T | ENSP00000508264.1:p.Val24Phe | |
| ENST00000379374.5:c.70G>T MANE Select | ENSP00000368682.4:p.Val24Phe | |
| ENST00000379374.4:c.70G>T | ENSP00000368682.4:p.Val24Phe | |
| NM_000444.5:c.70G>T | NP_000435.3:p.Val24Phe | |
| NM_001282754.1:c.70G>T | NP_001269683.1:p.Val24Phe | |
| XM_011545535.1:c.70G>T | XP_011543837.1:p.Val24Phe | |
| XR_001755695.1:n.749G>T | ||
| NM_000444.6:c.70G>T MANE Select | NP_000435.3:p.Val24Phe | |
| NM_001282754.2:c.70G>T | NP_001269683.1:p.Val24Phe |