Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160128671C>T , CM000663.2:g.160128671C>T | GRCh38 |
| NC_000001.10:g.160098461C>T , CM000663.1:g.160098461C>T | GRCh37 |
| NC_000001.9:g.158365085C>T | NCBI36 |
| NG_008014.1:g.17914C>T , LRG_6:g.17914C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361216.8:c.1037C>T MANE Select | ENSP00000354490.3:p.Ala346Val | |
| ENST00000361216.7:c.1037C>T | ENSP00000354490.3:p.Ala346Val | |
| ENST00000392233.7:c.1037C>T | ENSP00000376066.3:p.Ala346Val | |
| ENST00000447527.1:c.169C>T | ||
| ENST00000472488.5:n.1140C>T | ||
| NM_000702.3:c.1037C>T | NP_000693.1:p.Ala346Val | |
| NM_000702.4:c.1037C>T MANE Select | NP_000693.1:p.Ala346Val |