Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35846047C>T , CM000681.2:g.35846047C>T | GRCh38 |
| NC_000019.9:g.36336949C>T , CM000681.1:g.36336949C>T | GRCh37 |
| NC_000019.8:g.41028789C>T | NCBI36 |
| NG_013356.2:g.28241G>A , LRG_693:g.28241G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378910.10:c.1588G>A MANE Select | ENSP00000368190.4:p.Ala530Thr | |
| ENST00000353632.6:c.1588G>A | ENSP00000343634.5:p.Ala530Thr | |
| ENST00000378910.9:c.1588G>A | ENSP00000368190.4:p.Ala530Thr | |
| NM_004646.3:c.1588G>A , LRG_693t1:c.1588G>A | NP_004637.1:p.Ala530Thr | |
| NM_004646.4:c.1588G>A MANE Select | NP_004637.1:p.Ala530Thr |