Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.98542033G>A , CM000671.2:g.98542033G>A | GRCh38 |
| NC_000009.11:g.101304315G>A , CM000671.1:g.101304315G>A | GRCh37 |
| NC_000009.10:g.100344136G>A | NCBI36 |
| NG_016426.1:g.172165C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259455.4:c.470C>T MANE Select | ENSP00000259455.2:p.Ala157Val | |
| ENST00000637410.1:n.248C>T | ||
| ENST00000637717.1:c.86C>T | ENSP00000490789.1:p.Ala29Val | |
| ENST00000638001.1:n.80C>T | ||
| ENST00000259455.3:c.470C>T | ENSP00000259455.2:p.Ala157Val | |
| ENST00000477471.1:n.257C>T | ||
| ENST00000634227.1:n.244C>T | ||
| NM_005458.7:c.470C>T | NP_005449.5:p.Ala157Val | |
| XM_017015331.2:c.176C>T | XP_016870820.1:p.Ala59Val | |
| NM_005458.8:c.470C>T MANE Select | NP_005449.5:p.Ala157Val |