Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88720175C>T , CM000678.2:g.88720175C>T | GRCh38 |
| NC_000016.9:g.88786583C>T , CM000678.1:g.88786583C>T | GRCh37 |
| NC_000016.8:g.87314084C>T | NCBI36 |
| NG_042229.1:g.70046G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000301015.14:c.6058G>A MANE Select | ENSP00000301015.9:p.Ala2020Thr | |
| ENST00000466823.3:c.84G>A | ||
| ENST00000301015.13:c.6058G>A | ENSP00000301015.9:p.Ala2020Thr | |
| ENST00000466823.2:c.84G>A | ||
| ENST00000495568.7:n.299G>A | ||
| ENST00000497793.2:n.213G>A | ||
| NM_001142864.2:c.6058G>A | NP_001136336.2:p.Ala2020Thr | |
| NM_001142864.3:c.6058G>A | NP_001136336.2:p.Ala2020Thr | |
| NM_001142864.4:c.6058G>A MANE Select | NP_001136336.2:p.Ala2020Thr |